Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration

A 52-year-old woman had a newly recognized disorder of familial hypoceruloplasminemia, blepharospasm, retinal degeneration, and high-density areas in CT of the basal ganglia and liver scan. Immunofixation electrophoresis disclosed apoceruloplasmin deficiency. Kinetic, x-ray analysis, and histochemical study showed accumulation of iron in liver and brain, but not of copper. Intestinal copper absorption was reduced, but liver uptake was increased. Ceruloplasmin is involved in iron metabolism, and the findings suggest that hypoceruloplasminemia due to lack of apoceruloplasmin was causally linked to the iron deposition in basal ganglia and other organs, leading to blepharospasm and retinal degeneration.     

The effect of estradiol valerate and allylestrenol on endometrial transformation in hypergonadotropic hypogonadic women

The effect of estradiol valerate and allylestrenol on the endometrial transformation of five hypergonadotropic hypogonadic women was evaluated. Estradiol valerate was administered throughout the whole induced cycle (28 days), while allylestrenol was added during the second half of the cycle. Endometrial biopsies were performed during allylestrenol treatment and were evaluated histologically. Samples of endometrium were also subjected to one-dimensional SDS electrophoresis. Of ten biopsies performed, only one was interpreted to be in-phase, while the others were dated proliferative (4 biopsies) or showed abortive or out-of-phase secretory transformation. The highest mean serum progesterone level, detected under allylestrenol treatment, was 1.5 ng/ml. Protein electrophoresis demonstrated relative sequential changes in the protein patterns of the 115 kDa and 150 kDa protein bands. It is concluded that allylestrenol, although having gestagen properties, may not be efficient for the induction of an adequate secretory transformation of human endometrium in the absence of ovaries.     

EXTERNAL MALLEOLUS ACTION ON ANKLE STABILITY IN FIBULAR RESECTION

In the management of ankle joint fractures, re- duction and fixation of the lateral malleolus should be emphasized. The lateral maUeolus should have anatomical reduction and fixation should be reliable. Fibular integrity is essential in stabilizing the ankle joint. Routine section of the fibula may result in separation of the inferior tibiofibular joint, ankle instability and talus displacement. Eventually this leads to traumatic arthritis. So special attention should be paid to fibular resection, even partial removal of the fibula for transplantation should be carried out carefully.     

4-Aminopyridine induces the release of neuropeptide Y (NPY) to produce an atropine- and tetrodotoxin-resistant contraction in rabbit isolated jejunum

4-Aminopyridine (4-AP) induced an atropine- and tetrodotoxin (TTX)-insensitive contraction (resistant contraction), in a concentration-dependent manner, in the isolated jejunum of rabbits. The failure of specific antagonists of histamine, serotonin and substance P to affect this resistant contraction ruled out the participation of histamine, serotonin and/or substance P. Antiserum against neuropeptide Y (NPY) reduced this resistant contraction in a concentration-dependent manner and inhibited the action of 4-AP totally at a high concentration (1.25% dilution) whereas normal serum lacked this ability. This suggested that the release of NPY was involved in this 4-AP-induced resistant contraction. Radioimmunoassay of NPY-like immunoreactivity in isolated synaptosomal preparations indicated that 4-AP possessed the ability to induce the release of NPY. However, guanethidine did not affect the actions of 4-AP, indicating that NPY is released mainly from non-adrenergic nerves. Our results indicate that 4-AP induces the release of NPY from non-adrenergic nerves to produce an atropine- and TTX-resistant contraction in the isolated jejunum of rabbits.     

Dedifferentiated liposarcoma of the liver

Among the rare occurrences of primary malignant mesenchymal tumors of the liver, the development of liposarcoma has been only theoretically listed--there is no proven example in the literature. This article documents a case of primary liposarcoma of the liver in a 30-year-old woman who presented with a huge intrahepatic tumor in the left lobe measuring 14 X 10 X 6 cm. It was composed of two distinct macroscopic and histologic features--the well-differentiated liposarcoma and the cellular, nonlipogenic pleomorphic sarcoma. The former was a mature, lipomatous tumor with various stages of lipoblasts. The latter was much more cellular, made up of pleomorphic cells admixed with a few areas of spindle cells with many mitotic figures, resembling a pleomorphic variant of malignant fibrous histiocytoma. Oil red O stain revealed multifocal, but a scanty amount, of fat-storing tumor cells in both compartments aside from large fat globules in the differentiated area. This is the first reported case of primary liposarcoma of the liver.