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At least 199 records · Page 11Linked to original sources
PubMed1989

Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings.

Here we report on a boy who died at 16 1/2 months with hemihypertrophy, eye abnormalities, macrodactyly, hamartomas, pigmented nevi, cerebral involvement, and other anomalies compatible with the Proteus syndrome. In addition, he also had abnormalities previously unreported in the Proteus syndrome including craniosynostosis and complex congenital heart defects. He seems to represent an extremely severe form of the Proteus syndrome and expands the already broad range of the phenotype.

Abnormalities, Multiple↗
PubMed1990

New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism.

We report on a boy with Dubowitz syndrome and hypoparathyroidism from which he recovered, only to redevelop it at 6 years. He also had a submucous cleft palate and cineradiographic studies showed velopharyngeal insufficiency. Although a submucous cleft palate is a well-known manifestation of Dubowitz syndrome, velopharyngeal insufficiency has not been previously described.

Abnormalities, Multiple↗
PubMed1993

New findings in short rib syndrome.

This white infant, born at 37 weeks of gestation, had a large cranium, bilateral anophthalmia, a midline cleft lip and palate, hypoplastic chest with short ribs, slightly protuberant abdomen, short limbs, bilateral single transverse palmar creases, a single umbilical artery, normal female external genitalia, normal (46 XY) chromosomes, and radiographic findings suggesting a short-rib (polydactyly) syndrome type IV (Beemer-Langer). Autopsy showed pulmonary hypoplasia, bilateral renal cystic dysplasia, intrahepatic bile duct cysts with periportal fibrosis, pancreatic cysts, absent internal genitalia, an atrophic optic chiasm, absent optic nerves, a single left anterior cerebral artery, polymicrogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami.

Humans↗
PubMed1993

Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review.

"Epidermal nevus syndrome" ("ENS") is a neurocutaneous disorder in which epidermal nevi are associated with other abnormalities, most commonly of the skeletal and central nervous systems. We present two cases of epidermal nevus syndrome (ENS) with very different clinical findings. The first case is a newborn with multiple linear epidermal nevi of the trunk and limbs, and several other anomalies, including bony duplications of the lower limbs and hypoplastic left heart syndrome. The second patient, a 6-year-old boy, has a linear nevus sebaceous of the scalp with severe CNS involvement, including generalized seizures, moderate mental retardation, microcephaly, and a left hemiparesis. He also has genitourinary, cardiac, and skeletal defects. These two patients exhibit several abnormalities not previously recognized and illustrate the wide clinical spectrum of "epidermal nevus syndrome." We present a review of the clinical findings in 74 cases of "ENS." Correlation was noted between the presence of skin lesions located on the head and CNS involvement. The wide clinical spectrum of "ENS" as illustrated by these two patients suggests that "ENS" is a causally heterogeneous group of disorders.

Abnormalities, Multiple↗
PubMed1993

New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma.

We report on a boy with Schinzel-Giedion syndrome (SGS) with a previously unreported manifestation, a malignant sacrococcygeal teratoma. This is the second case of SGS to have a malignancy, as one earlier case had a hepatoblastoma. We postulate that the occurrence of 2 uncommon embryonic tumors among these patients with a rare syndrome may mean that risk of malignancy may be a component of this syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Pericentric inversion of chromosome 2 and echogenic vasculature in the basal ganglia: a new finding?

Linear branching echogenicities in the thalamus or basal ganglia have been reported in infants with several genetic and nongenetic disorders. In this article, we report 2 cases of newborns with a neurosonographic diagnosis of thalamic/basal ganglia vasculopathy and karyotype analysis showing pericentric inversion of chromosome 2. To our knowledge, there has been no previous mention of an association between these entities.

Basal Ganglia↗
PubMed1986

New findings in live, attenuated hepatitis A vaccine development.

Strain CR326F of hepatitis A virus, derived from a fecal specimen of Costa Rican patient 033-03, was passed 15 times in fetal rhesus monkey kidney (FRhK6) cell cultures plus eight times in human diploid lung (MRC5) cell cultures to yield variant F and 16 times in MRC5 cell cultures to yield variant F'. Both variants were purified by limit dilution passages. Virulence for marmosets was assessed at six different passage levels, including variants F and F'. There was a gradual loss of virulence with in vitro passage. Variant F retained slight virulence for marmosets; variant F' showed no evidence of virulence. Both variants induced hepatitis A antibody in most marmosets that received them, and the animals were immune to infection when challenged. Variants F and F' were also assessed in chimpanzees. As in marmosets, F retained slight virulence but F' did not. Experimental vaccines made from variants F and F' were then inoculated parenterally into adult human volunteers. A portion of recipients of variant F showed brief, low-order enzyme elevations; none was seen in recipients of F', although their occurrence could not be totally ruled out. As in the animal models, F' appeared more attenuated than F. Most persons developed hepatitis A antibody, indicating the feasibility of developing a live, attenuated hepatitis A vaccine for human beings.

Animals↗
PubMed2002

Finding new candidate genes for learning and memory.

The genetic mechanisms underlying learning and memory remain mysterious, but many of the genes are likely to be expressed in the hippocampus, a region pivotal to this process. We used a 9,000 gene microarray to examine differences in hippocampal gene expression between two F1 hybrid mouse strains that perform well on the Morris water maze and two inbred strains that perform poorly. This resulted in identification of 27 differentially expressed genes, which could be used to place the F1 hybrid and inbred strains into separate clusters based on singular value decomposition. Most of the genes have unknown function, but those with known functions may provide clues to the molecular mechanisms of learning. Using multiple strains to narrow down the number of candidate genes should be a useful general approach to genome-wide studies of behavioral and other complex traits.

Animals↗
PubMed2002

New findings on degradation of famotidine under basic conditions: identification of a hitherto unknown degradation product and the condition for obtaining the propionamide intermediate in pure form.

The degradation behavior of famotidine (1) was investigated in 25% ammonia solution and in 2 M NaOH. The hydrolysis of the drug in ammonia resulted in separation of [3-[[2-[(diaminomethylene)amino]-4-thiazolyl]methyl]thio]propionamide (3), an impurity listed in British Pharmacopoeia. The treatment with 2 M NaOH resulted in formation of [3-[[[2-[(diaminomethylene)amino]-4-thiazolyl]methyl]thio]propionyl]sulfamide (2) and 3. These products further decomposed to [3-[[2-[(diaminomethylene)amino]-4-thiazolyl]methyl]thio]propionic acid (4) and a heretofore unknown product, 5. The latter separated out in the reaction mixture as brown shiny crystals. Proton and carbon-13 nuclear magnetic resonance spectroscopy, mass spectrometry, and elemental analysis of the charcoal-treated product established the structure. The formation of 5 is postulated to involve abstraction of a proton from the alpha-carbon of intermediates 2 and 3 followed by elimination of the thiol moiety.

Amides↗
PubMed1990

Down-regulation of progestin receptors in guinea pig brain: new findings using an immunocytochemical technique.

Progesterone injection in estradiol-primed, ovariectomized guinea pigs results in down-regulation of hypothalamic progestin receptors determined by in vitro binding assays. In order to determine if progesterone also decreases immunostaining of progestin receptors and if progestin receptors are down-regulated preferentially in particular neuroanatomical areas, ovariectomized guinea pigs were injected with doses of estradiol benzoate (10 micrograms at 42 h before progesterone injection) and progesterone (500 micrograms at 4, 12, or 24 h before perfusion) that reliably induce the expression of lordosis and subsequent behavioral refractoriness to progesterone. Progestin receptor-immunoreactive cells were counted in sections from discrete parts of the preoptic area and hypothalamus. As expected, estradiol dramatically increased cell nuclear, and, to a lesser extent, cytoplasmic, immunostaining in defined regions of the preoptic area and hypothalamus. By 12 h after progesterone injection, the number of progestin receptor-immunoreactive cells had decreased in some areas, but not others. The rostral and caudal aspects of the ventrolateral hypothalamus were particularly responsive showing a substantial decrease in progestin receptor-immunoreactivity by 12 h after injection. No decreases in the progestin receptor-immunoreactive cell number were observed in any of the preoptic regions examined, although obvious decreases in immunostaining intensity were seen. The results of these immunocytochemical experiments extend earlier findings from in vitro progestin binding experiments and demonstrate that as with progestin binding, progestin receptor-immunoreactivity decreases when progesterone is injected in a behavioral desensitization procedure. Furthermore, they point to the ventrolateral hypothalamus as one site in which the down-regulation of progestin receptors may be particularly responsive to progesterone.

Animals↗