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At least 199 records · Page 11Linked to original sources
PubMed1984

Developmental delays in Williams ("Elfin facies") syndrome.

This study reports the results of psychological and physical characteristics of seven children with Williams syndrome. All subjects were found to be borderline to severely mentally retarded. The previously reported pattern of superior verbal abilities over motor abilities was not supported, nor was there any evidence of an "unusual command" of language, usually considered a marker of the syndrome. The early development profiles of these children are important for parental counseling and planning of early intervention stimulation programs.

Aortic Valve Stenosis↗
PubMed2004

Prima facie evidence that a phytocystatin for transgenic plant resistance to nematodes is not a toxic risk in the human diet.

A protein-engineered rice cystatin (OcIDeltaD86) provides transgenic, partial crop resistance to plant nematodes. This study determined whether its oral uptake has adverse effects on male Sprague-Dawley rats when they are administered by oral gavage 0.1-10 mg OcIDeltaD86/kg body weight daily for 28 d. Body weight and water and food intakes were unaltered for most of the study. The only significant changes in fresh weight of nine organs were for the liver (4% decrease; P < 0.05) and the empty cecum (14% increase; P < 0.05) at the two lowest doses and the highest dose of OcIDeltaD86, respectively. No abnormalities in either organ were detected by histochemistry. There were no changes in the urine or in hematological variables measured, and blood serum revealed no dose-dependent responses for any of 17 variables measured. OcIDeltaD86 was degraded by boiling with a 50% loss of its inhibition of papain after 9.2 +/- 8.0 min. It also showed >95% loss of such inhibition after 15 s in simulated gastric fluid. The results suggest that the no effect level (NOEL) for OcIDeltaD86 is >10 mg/(kg. d). This provides a range of dietary exposure >200-2000 fold depending upon the promoter used to control its expression in potato.

Administration, Oral↗
PubMed1995

Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.

We describe a 19-year-old boy who presented with facial dysmorphism, multiple lateral meningoceles, skeletal abnormalities and normal intelligence. Neurofibromatosis and Marfan syndrome were excluded. Electron microscopy of the skin showed non-specific abnormalities suggesting a connective tissue disorder. The features of this boy closely resemble those in a mother and daughter with Lehman syndrome.

Abnormalities, Multiple↗
PubMed2001

Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?

We report a pattern of malformation affecting five of seven siblings born to unaffected Afghani parents who are first cousins. Their first two children died during infancy of cyanotic congenital heart defects. Two living male siblings have tetralogy of Fallot, developmental delay principally affecting language skills, and short palpebral fissures or midfacial hypoplasia. Another male has communicating hydrocephalus and hypertelorism. The striking number of siblings with tetralogy of Fallot, or another cyanotic congenital heart defect, and the parental consanguinity, suggests autosomal recessive inheritance in this family. While several other families have been identified with apparent recessive inheritance of tetralogy of Fallot, the associated malformations in our family suggest a unique, and previously unreported, malformation pattern.

Adolescent↗
PubMed2007

Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?

Three siblings with postaxial polydactyly type A, congenital heart defect (single atrium), mental retardation, microcephaly, a distinctive facial appearance, skeletal anomalies and neonatal macrosomy were studied. Comparison with other cardiomelic syndromes previously described in the literature lead us to conclude that this is a new faciocardiomelic syndrome probably inherited as an autosomal recessive trait.

Abnormalities, Multiple↗
PubMed1987

Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies in a mother and son.

We report a mother and son who have a microcephaly with a characteristic dysmorphic face. Prominent manifestations include facial asymmetry, prominent glabella, deafness, low-set, cup-shaped ears, thick, protruding lower lip, micrognathia, and mental retardation. We conclude that these patients have a previously undescribed type of genetic microcephaly. The mother has become normocephalic and we would not have been able to diagnose her condition without her childhood photographs. Such photographs are essential in the recognition of familial syndromes.

Abnormalities, Multiple↗
PubMed1992

Autosomal recessive gingival fibromatosis with distinctive facies.

Hereditary gingival fibromatosis is a rare condition occurring as an isolated anomaly or as part of a genetic syndrome. The isolated or syndromic disorders are usually inherited in an autosomal dominant manner, but an autosomal recessive form has been suggested. We report on male and female siblings who have gingival fibromatosis in association with specific facial dysmorphism. Their phenotype is depicted and described to document this hitherto unreported autosomal recessive gingival fibromatosis syndrome.

Adolescent↗
PubMed1997

The two facies of pyrrolizidine alkaloids: the role of the tertiary amine and its N-oxide in chemical defense of insects with acquired plant alkaloids.

Larvae of Creatonotos transiens (Lepidoptera, Arctiidae) and Zonocerus variegatus (Orthoptera, Pyrgomorphidae) ingest 14C-labeled senecionine and its N-oxide with the same efficiency but sequester the two tracers exclusively as N-oxide. Larvae of the non-sequestering Spodoptera littoralis eliminate efficiently the ingested alkaloids. During feeding on the two alkaloidal forms transient levels of senecionine (but not of the N-oxide) are built up in the haemolymph of S. littoralis larvae. Based on these results, senecionine [18O]N-oxide was fed to C. transiens larvae and Z. variegatus adults. The senecionine N-oxide recovered from the haemolymph of the two insects shows an almost complete loss of 18O label, indicating reduction of the orally fed N-oxide in the guts, uptake of the tertiary alkaloid and its re-N-oxidation in the haemolymph. The enzyme responsible for N-oxidation is a soluble mixed function monooxygenase. It was isolated from the haemolymph of the sequestering arctiid Tyria jacobaeae and purified to electrophoretic homogeneity. The enzyme is a flavoprotein with a native Mr of 200000 and a subunit Mr of 51000. It shows a pH optimum at 7.0, has its maximal activity at a temperature of 40-45 degrees C and an isoelectric point at pH 4.9. The reaction is strictly NADPH-dependent (Km 1.3 microM). From 20 pyrrolizidine alkaloids so far tested as substrates, the enyzme N-oxidizes only alkaloids with structural elements which are essential for hepatotoxic and genotoxic pyrrolizidine alkaloids (i.e. 1,2-double bond, esterification of the allylic hydroxyl group, presence of a second free or esterified hydroxyl group at carbon 7). A great variety of related alkaloids and xenobiotics were tested as substrate, none was accepted. The Km values of senecionine, monocrotaline and heliotrine, representing the three main types of pyrrolizidine alkaloids, are 1.3 microM, 12.5 microM and 290 microM, respectively. The novel enzyme was named senecionine N-oxygenase (SNO). The enzyme was partially purified from two other arctiids. The three SNOs show the same general substrate specificity but differ in their affinities towards the main structural types of pyrrolizidine alkaloids. The enzymes from the two generalists (Creatonotos transiens and Arctia caja) display a broader substrate affinity than the enzyme from the specialist (Tyria jacobaeae). The two molecular forms of pyrrolizidine alkaloids, the lipophilic protoxic tertiary amine and its hydrophilic nontoxic N-oxide are discussed in respect to their bioactivation and detoxification in mammals and their role as defensive chemicals in specialized insects. Pyrrolizidine-alkaloid-sequestering insects store the alkaloids as nontoxic N-oxides which are reduced in the guts of any potential insectivore. The lipophilic tertiary alkaloid is absorbed passively and then bioactivated by cytochrome P-450 oxidase.

Amines↗