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1.
Med Wieku Rozwoj ; 16(4): 280-3, 2012.
Article in English | MEDLINE | ID: mdl-23378406

ABSTRACT

UNLABELLED: Klippel-Trenaunay syndrome (KTS) is a rare, congenital vascular anomaly, defined as a triad including a port-wine stain, underlying bone and soft tissue hypertrophy and varicose veins and/or venous malformations. AIM: Our aim is to present the case of a 13-year-old girl with a delayed proper diagnosis of incomplete expression of KTS presenting with a port-wine stain of her left lower extremity associated with hypertrophy of the affected limb (upon the moment of diagnosis no varicose veins were observed). The patient did not experience any pain in the affected limb, nor was she diagnosed with neuropathy - both of above mentioned symptoms are often a significant issue. To ensure proper diagnosis, the patient underwent a broad spectrum of diagnostic tests, including physical examination with anthropometric measuring, biochemical tests, as well as radiological examinations including CT scan, Doppler vein ultrasound and bone X-ray. Based on physical examination and test results we were able to establish the diagnosis of incomplete expression of Klippel-Trenaunay syndrome. SUMMARY: The authors aim to emphasise the very rare incidence of KTS, as well as the low level of awareness of the described disease, which resulted in the significantly delayed final diagnosis in the presented case. Establishing the diagnosis of KTS before the onset of severe vascular complications, regular check-ups in the Outpatient Clinic of Haemangioma Care and compression dressing may help avoid/diminish the severity and significantly delay the development of venous failure of the affected limb.


Subject(s)
Klippel-Trenaunay-Weber Syndrome/diagnosis , Adolescent , Delayed Diagnosis , Diagnostic Imaging , Female , Humans , Physical Examination
2.
Ann Acad Med Stetin ; 57(2): 10-7, 2011.
Article in Polish | MEDLINE | ID: mdl-23002663

ABSTRACT

Keloid scarring, also known as keloid disease, is a benign, locally aggressive fibroproliferative scar overgrowth that expands with involvement of adjacent healthy skin. The pathogenesis of keloid disease has not been fully elucidated. In recent years, many reports have been published that unequivocally reveal genetic predispositions to keloid formation. Basing on the available literature, the authors present the most recent research on some aspects of molecular bases of keloid scarring.


Subject(s)
Keloid/genetics , Apoptosis/genetics , Cytokines/genetics , Cytokines/metabolism , Genetic Predisposition to Disease , Humans , Mutation , Polymorphism, Genetic , Proto-Oncogene Proteins pp60(c-src)/genetics , Proto-Oncogene Proteins pp60(c-src)/metabolism
3.
Ann Acad Med Stetin ; 57(3): 49-63, 2011.
Article in English, Polish | MEDLINE | ID: mdl-23383548

ABSTRACT

Cadmium (Cd, cadmium in Latin) is a heavy metal widely present in nature. Like Hg, Pb, and As, cadmium belongs to elements with an unknown physiopathologic role. The progress of civilization, urbanization, and industrialization may lead to significant risk of cadmium pollution in the natural environment. The authors draw attention to the likely causes and effects of environmental pollution with cadmium and its effects on human health. Environmental and occupational exposures are discussed. Strong correlations between cadmium dose, exposure time, tissue concentration, and clinical symptoms in humans are emphasized.


Subject(s)
Cadmium Poisoning/complications , Cadmium/pharmacokinetics , Cadmium/toxicity , Environmental Exposure/adverse effects , Adult , Bone and Bones/drug effects , Cadmium Poisoning/etiology , Carcinogens/pharmacokinetics , Carcinogens/toxicity , Cardiovascular System/drug effects , Child , Humans , Reproduction/drug effects , Retinal Diseases/chemically induced , Urogenital System/drug effects
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