[Bilateral congenital hypoplasia of the cubitus and bilateral calcaneo-cuboidal synostosis in a young girl].
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Biomedical subjects
Publications and source records attributed to K Kozlowski.
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The aim of the study was to compare the feasibility of the MEGX (monoethylglycinexylidide) and antipyrine tests in reference to standard biochemical parameters used for liver assessment in cirrhotic patients. The study was carried out in 44 subjects: 14 healthy controls and 30 cirrhotic patients classified according to the Child-Pugh's score to subgroups A (n=11), B (n=12) and C (n=7). All subjects underwent two dynamic liver tests, i.e. MEGX (monoethylglycinexylidide) and antipyrine test in a crossover schedule with at least 5-day interval. For the MEGX, lidocaine was administrated intravenously, at a dose of 1 mg/kg, and blood samples for MEGX assay were collected after 15 minutes. MEGX concentrations were measured by fluorescence polarization immunoassay. The antipyrine concentrations were evaluated following a single oral administration of 1000 mg antipyrine. The blood was sampled for 24 hours after the drug administration, and antipyrine concentrations were measured spectrophotometrically. Standard biochemical parameters used for liver assessment were measured by means of routine laboratory methods. It was concluded that in patients liver with cirrhosis, liver dynamic tests were better predictors of hepatic function. The MEGX test was more feasible in clinical setting, but it was noted that antipyrine test was more sensitive in staging liver cirrhosis.
In 16 children with malabsorption syndrome, out of which 5 had impaired lipid absorption or diarrhoea, and in 14 children in the control group the concentrations of vitamin D and 25 OH D3 were determined after oral administration of vitamin D in dose of 1200 U/kg.b.wt. or 12000 U/kg.b.wt. No decrease in initial 25 OH D3 concentrations was noted in children with malabsorption syndrome (40,5 +/- 0,7 ng/ml) in comparison with the control group (40,0 +/- 0,4 ng/ml). In children with impaired lipid absorption and diarrhoea the 25 OH D3 concentration was 33,6 +/- 2,4 ng/ml. After oral administration of vitamin D in small doses no differences were noted in the increase in vitamin D and 25 OH D3 concentrations in children with malabsorption syndrome or the control group. After administration of vitamin D in the dose 10 times higher no difference in the increase in vitamin D concentration was noted in children with malabsorption syndrome and the control group. However the increase in 25 OH D3 concentration in children with malabsorption syndrome was 49,8 +/- 1,2 ng/ml and 145,0 +/- 3,5 ng/ml in the control group. In the children with impaired lipid absorption and diarrhoea decreased vitamin D and 25 OH D3 concentrations were noted. This means that physiological doses of vitamin D in children with malabsorption syndrome are sufficient to supply vitamin D. Diarrhoea and impaired lipid absorption however, are indications for stimulation of skin synthesis of vitamin D.
Congenital agastria has never before been reported. Congenital microgastria is rare but is well documented. We have cared for a Melanesian child in whom there was no radiological, anatomical, or physiological evidence of either a rudimentary stomach or a pylorus. The esophagus joined the first part of the duodenum directly. At this esophago-duodenal junction there was microscopic evidence of fundic-type gastric mucosa. The intestine was normally rotated and there was a functioning spleen. The child also had a severe micrognathia and a cleft soft palate and required a tracheostomy to relieve upper airway obstruction. The combination of micrognathia and agastria presented a difficult nutritional delivery problem. A jejunal pouch was constructed and placed between the esophagus and duodenum to provide some storage capacity. The child grew and developed well for almost 3 years. He suffered three episodes of severe acute enteritis, probably related to lack of the protective acid-pepsin barrier against ingested microorganisms. Unfortunately, the third episode of acute enteritis caused his death 3 months after returning home to his own country.
Diseases characterized by defective metaphyseal ossification, (metaphyseal chondrodysplasias) and defective spinal and metaphyseal ossification (spondylometaphyseal chondrodysplasias) constitute an important group of congenital intrinsic diseases of bones in which orthopedic treatment is of utmost interest. The most common types of metaphyseal chondrodysplasias (Jansen, Schmid, McKusick, and Metaphyseal Chondrodysplasia with Pancreatic Insufficiency and Neutropenia) and spondylometaphyseal chondrodysplasias (Kozlowski) have characteristic well-defined diagnostic features. The importance of proper diagnosis for practical reasons--appropriate medical and psychological treatment, professional training and genetic counseling--cannot be overemphasized. Elucidation of the pathogenesis in this group of diseases is bound to emerge from future histochemical and biochemical research.
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Osteomesopycnosis is a rare osteosclerotic bone disorder limited to the axial skeleton. The disease has diagnostic radiographic findings. Fewer than 20 cases have been published in the literature. We present the first Australian case of this disease.
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