Muscle eye brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD) are congenital muscular dystrophies with associated, similar brain malformations. The FCMD gene, fukutin, shares some homology with fringe-like glycosyltransferases, and the MEB gene, POMGnT1, seems to be a new glycosyltransferase. Here we show, in both MEB and FCMD patients, that alpha-dystroglycan is expressed at the muscle membrane, but similar hypoglycosylation in the diseases directly abolishes binding activity of dystroglycan for the ligands laminin, neurexin and agrin. We show that this post-translational biochemical and functional disruption of alpha-dystroglycan is recapitulated in the muscle and central nervous system of mutant myodystrophy (myd) mice. We demonstrate that myd mice have abnormal neuronal migration in cerebral cortex, cerebellum and hippocampus, and show disruption of the basal lamina. In addition, myd mice reveal that dystroglycan targets proteins to functional sites in brain through its interactions with extracellular matrix proteins. These results suggest that at least three distinct mammalian genes function within a convergent post-translational processing pathway during the biosynthesis of dystroglycan, and that abnormal dystroglycan-ligand interactions underlie the pathogenic mechanism of muscular dystrophy with brain abnormalities.

The development of predecidual tissue during the late postovulatory phase was evaluated by light microscopic study in the baboon, chimpanzee, and human being. While the predecidual cells of these species appeared to be similar morphologically, the degree of predecidual differentiation was greater in humans and chimpanzees than in baboons. The evidence indicated that the presence of a blastocyst was not required for decidualization to occur in these three primates. Further, decidualization was not dependent on coitus in chimpanzees and baboons, and was probably not essential in humans either.

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In an effort to define more clearly the effect various plasma concentrations of estrogen have on the morphology and function of tanycytes, the present investigation examined the median eminence (ME) of normally cycling, ovariectomized, and ovariectomized-estradiol-treated hamsters. In normally-cycling animals, when endogenous estrogen was at its highest level (day 4 or proestrus), numerous microappendages arose from the luminal surfaces of tanycytes located in the ventrolateral region of the ME. Large blebs (1.0-5.0-micrometers diameter), miniblebs (1.0-micrometer diameter), and microvilli dominated the surfaces of these cells. Large blebs appeared to have been formed by the coalescence of several miniblebs and were composed of cytoplasmic ground substance devoid of organelles. The peduncular shape of many of these blebs suggested their involvement in an apocrinelike secretion by the tanycyte. When endogenous estrogen levels were low (day 1 of the estrous cycle), the tanycytes of normally cycling hamsters possessed slightly fewer microappendages. Following ovariectomy, large blebs were nearly absent from the luminal surfaces of tanycytes, and the number of miniblebs and microvilli were also greatly reduced. Subcutaneous injections of 17-beta estradiol benzoate restored the large blebs to the tanycyte surface. The number and variety of tanycytic microappendages in these animals resembled those in normally cycling hamsters on day 4 of the estrous cycle. The present study demonstrates that tanycytes of the hamster ME are sensitive to estrogen and vary in their morphology in relation to the animal's reproductive status. These changes in tanycyte morphology can be correlated directly to functions of absorption (microvilli) and secretion (blebs). The sensitivity of tanycytes to estrogen suggests that these cells may also play a role in the hypophyseal-ovarian feedback mechanism.

We report the familial occurrence of acinic cell carcinoma involving the parotid gland, the first such report of which we are aware. The familial occurrence of any salivary gland neoplasm is rare. Several reports are present in the literature, including pleomorphic adenoma, Warthin tumor, carcinoma of the submandibular gland, and malignant lymphoepithelial lesion. We report the case of a 35-year-old man who underwent excision of a left parotid gland acinic cell carcinoma. Eight years later, his daughter presented at the age of 16 years with a nontender parotid gland mass that was excised and found also to be acinic cell carcinoma. The histologic features of both neoplasms were typical of acinic cell carcinoma. While this may represent a coincidental event, the possibility that this familial occurrence is a manifestation of common genetic or environmental risk cannot be excluded.