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Biomedical subjects

W Schmid

Publications and source records attributed to W Schmid.

At least 145 records · Page 8Linked to original sources
PubMed1982

Isolation of cDNA clones coding for rat tyrosine aminotransferase.

Tyrosine aminotransferase (TyrATase; L-tyrosine: 2-oxoglutarate aminotransferase, EC 2.6.1.5) from rat liver is subject to glucocorticoid and cAMP as well as developmental control. To isolate DNA sequences encoding TyrATase, we constructed a cDNA library from rat liver poly(A)+RNA enriched for TyrATase mRNA. Recombinant plasmids were screened by differential colony hybridization to poly(A)+RNA isolated from adrenalectomized and dexamethasone-treated animals. Differentially hybridizing plasmids were then shown to contain TyrATase cDNA sequences by their ability to select a mRNA whose in vitro translation product is immunoprecipitable with antiserum against TyrATase. In confirmation, we detect mRNA homologous to TyrATase cDNA sequences in hepatoma cell lines known to contain TyrATase activity but not in a cell line lacking this activity. We show that treatment of rats with dexamethasone or N6,O2'-dibutyryladenosine 3',5'-cyclic monophosphate leads to a 5- to 10-fold increase in the amount of TyrATase mRNA.

Animals↗
PubMed1981

Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families.

A syndrome due to 3:1 meiotic segregation of balanced 11/22 translocation is defined from nine personally observed patients and 22 cases from the literature with apparently the same aberration. Frequent findings include a characteristic face with deep-set eyes, flat nose, prominent upper lip, receding mandible and preauricular pits or tags, male genital hypoplasia, anal atresia or other anomalies of the anus, cleft palate, and congenital heart defect. Less frequent are severe reduction of the auricles, an additional pair of ribs, and hypoplasia of the diaphragm. Perinatal mortality is high. Growth is usually and psychomotor development is invariably and severely delayed. Balanced 11/22 translocations are apparently disproportionally frequent; as the balanced rearrangement is not easy to detect, it is important to be aware of it at the family investigation of cases with extra chromosomes similar to a No. 22 or 22q-. The unbalanced products are most probably trisomic for both a segment of 22 (22q-) and a distal segment of 11q; the exact determination of the breakpoints is not possible at present due to the similar banding characteristics of the two segments involved in the translocation.

Abnormalities, Multiple↗
PubMed1981

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Eleven patients with the so-called Cat Eye syndrome are reported including a more detailed description of the original cases reported by Schmid and Fraccaro. All cases had, in addition to a normal karyotype, a small extra G-like chromosome which appeared to be an isochromosome for the juxtacentromeric region (pter to q11) of an acrocentric chromosome. None were mosaics. Clinical findings and further cytogenetic studies in a few cases suggest that these markers probably derive from a No. 22 chromosome. Characteristic features of the Cat Eye syndrome in these 11 patients and those reviewed from the literature are: ocular coloboma which may involve the iris, choroid and/or optic nerve, preauricular skin tags and/or pits which are probably the most consistent feature, congenital heart defect, anal atresia with a fistula, renal malformations such as unilateral absence, unilateral or bilateral hypoplasia, and cystic dysplasia, and antimongoloid position of eyes. Intelligence is usually low-normal, although moderate retardation is also seen. There is great variability in the clinical findings ranging from near normal to lethal malformations. Less frequent, but also characteristic findings are: microphthalmia, microtia with atresia of the external auditory canal, intrahepatic or extrahepatic biliary atresia and malrotation of the gut. Direct transmission of the marker from one generation to the other was observed in both sexes. In those families, there was considerable variability in the clinical findings between affected family members. These cases show that there is a bias of ascertainment for patients who have the more striking malformations, especially those with ocular coloboma and anal atresia, a combination which appears to be present in only a minority of cases. Many mildly affected patients probably remain undetected. It is proposed that the term Cat Eye syndrome should be applied only to cases with trisomy or tetrasomy of not more than 22pter to q11 and without additional duplication or deletion of another autosomal segment.

Adolescent↗
PubMed1981

Glucocorticoid receptors and sensitivity in leukemias.

In an attempt to investigate the utility of glucocorticoid receptor determination to predict clinical responsiveness in human leukemias we have studied glucocorticoid receptors in the leukemic cells from 46 patients and in the lymphocytes from 18 normal donors. In the normal lymphocytes there were 3,875 (Median) specific binding sites per cell. The blasts from 17 patients with ANLL had on average higher levels of binding sites per cell (Median = 7,250, range: 0 to 15,295) than the other leukemias. Of the 15 patients with CLL, six had received glucocorticoid treatment for 3 to 5 years. Their lymphocytes had lower number of receptors (Median = 2,000) than the other cases which were newly diagnosed (Median = 4,500). Four patients had ALL/AUL, three patients had blast crisis as terminal phase of CML, and seven had leukemic Non-Hodgkin lymphomas (Median = 3,500 sites/cell). In 24 patients we have also studied the in vitro sensitivity of the leukemic cells to dexamethasone. There was no marked correlation between glucocorticoid receptor levels and in vitro sensitivity. An attempt to correlate receptor levels with clinical responsiveness demonstrated that glucocorticoid receptor determination might be of value in patients with lymphoid malignancies but probably not in patients with other leukemias.

Adult↗
PubMed1981

Dexamethasone-binding proteins in cytosol and nucleus of rat thymocytes. Purification of three receptor proteins.

Dexamethasone-binding proteins from the cytosol and the nucleus of rat thymocytes were analyzed by ion-exchange chromatography on DEAE-cellulose. Three dexamethasone-binding proteins were revealed in cytosol, one in the flow-through (DE-1) and two (DE-2 and DE-3) eluting from the column with 0.13 M and 0.23 M NH4Cl, respectively. In nuclear extracts only one receptor fraction, present in the flow-through, could be detected. By a combination of affinity chromatography on Cl-Sepharose to which dexamethasone 21-methanesulfonate was linked through a disulufide bond and DEAE-cellulose chromatography, three receptor proteins were highly purified from cytosol, with molecular weights of 45 000, 72 000 and 90 000 and one from nuclear extracts with molecular weight of 72 000. Antibodies to the 45 000-Mr and 90 000-Mr proteins were elicited in rabbits. The antibodies to the 45 000-Mr protein cross-react with the 90 000-Mr. Similarly, the antibodies to the 90 000-Mr protein cross-react with the 45 000-Mr protein. Antibodies to either of the two proteins immunoprecipitate 60--70% of the dexamethasone-binding activity of rat thymus cytosol. Immunoaffinity chromatography of cytosol and nucleosol on columns of Sepharose linked to the IgG against either the 45 000-Mr or the 90 000-Mr protein leads to binding of these proteins on the columns but not of the 72 000-Mr species. Two nuclear polypeptides with molecular weights of 36 000 and 38 000 remain attached to the immunoaffinity column; these polypeptides may represent degradation products of the cytoplasmic receptor upon entrance into the nucleus. Antibodies against two dexamethasone-binding proteins from rat liver cytosol immunoprecipitate the 45 000-Mr cytosol receptors from rat thymus.

Animals↗
PubMed1981

Somatic pairings of the Y heterochromatin in human XYY and XYqi cells.

In human interphase nuclei containing Yq isochromosomes or two Y chromosomes, there are conspicuous somatic pairings between the brightly fluorescing Y-heterochromatin regions. These somatic pairings cannot be demonstrated in metaphases from conventional cell cultures because they are disrupted at the mitotic prophase. However, in lymphocytes cultivated in a medium containing distamycin A, the somatic pairing between Y-heterochromatin is preserved to metaphase. The present findings are compared with earlier observations of somatically paired heterochromatin. An explanation for the highly disparate frequency of somatic pairing between the Y-heterochromatin regions in Yq isochromosomes and YY chromosomes is proposed.

Chromosome Aberrations↗
PubMed1980

Determination of glucocorticoid receptors in human leukemias.

Determination of steroid receptors has been used to predict steroid sensitivity in various neoplasias. In an attempt to investigate its applicability in human leukemias we have studied glucocorticoid receptors in the leukemic cells from 23 patients with various hematologic neoplasias and in the lymphocytes from 18 normal donors. Specific glucocorticoid binding in intact cells was determined by a whole cell competitive binding assay. Normal lymphocytes have about 4,611 specific binding sites per cell. The blasts from 9 patients with acute myelogenous leukemias (AML) have strongly varying high levels of specific binding sites, ranging from 4,817 to 15,416 per cell. Of the 13 patients with chronic lymphocytic leukemia (CLL), 5 have received glucocorticoid treatment for years and were clinically resistant to glucocorticoid. Their lymphocytes have lower specific binding sites (range: 2,047 to 3,999) than the other CLL cases which were newly diagnosed (range: 3,734 to 11,020). Our results suggest that determination of glucocorticoid receptors might be of value in predicting clinical responsiveness in leukemias.

Dexamethasone↗
PubMed1980

Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern of abnormalities. Both had severe mental retardation, macrocephaly, absence of the corpus callosum, unusual facial appearance, duplication of hallucal phalanges, postaxial hexadactyly of finger phalanges, and 2/3-syndactyly of toes. The boy also had postaxial hexadactyly of toe phalanges, inguinal hernias and umbilical hernia, and growth retardation. We suspect a common cause of this apparently "new" syndrome, most likely a gene mutation.

Abnormalities, Multiple↗
PubMed1980

Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies.

An 8-year-old revealed the karyotype 46,XX,del(1)(q21 leads to q25). Both parents had normal chromosomes. The patient showed the following findings: underweight at birth, severe growth deficiency (at 7 9/12 years, length, weight and head circumference were at the levels of 24, 18 and 6 months, respectively), delayed bone age; bilateral cleft lip and cleft palate; a pattern of facial dysmorphic stigmata including a short, bulbous nose, exotropia, anisocoria, absence of some teeth, poorly modeled auricles; very small hands and feet with short fingers and toes, and broad thumbs and big toes exhibiting dysplastic, hyperconvex nails; in radiographs multiple phalangeal cone-shaped epiphyses, bifid terminal phalanges of the thumbs and half-moon shaped terminal phalanges of the big toes and absence of the 12th ribs. The patient suffered from seizures and from recurrent otitis and pyuria. Motor and mental development were profoundly delayed: at 8 years she was unable to sit up, had no speech and barely responded to her environment. As the proband and her parents were Fya/Fyb, location of the Duffy locus on segment 1q22 leads to 1q24 can be excluded.

Abnormalities, Multiple↗
PubMed1980

[The aged person as patient (author's transl)].

Old people with diminished vigilance show a reduced serum-beta-glucuronidase activity. This means insufficiency of impulse, adaptation, regeneration; sometimes decrease of the dominant gene pattern with consecutive depression. Is the disorder of the "basic physical and psychological condition" a symptom of a physiophysical call lability?

Aged↗
PubMed1980

[Problem of the restoration of the bile ducts in gallstone ileus].

Survey of 4 patients suffering from gallstone-ileus followed up after 25 months, we performed for i.v. cholangiography and barium meal follow through, and we found in 2 cases a fistula between duodenum and the gallbladder. These patients did not present with any particular symptoms. In view of this we discussed the possibilities of surgical management.

Aged↗
PubMed1979

Trisomy for the distal third of the long arm of chromosome 19 in brother and sister.

Trisomy for the distal third of the long arm of chromosome 19 was observed in a 12-year-old boy and his 9-year-old sister. Both are affected by extremely severe statural and psychomotor retardation. The physical symptoms common to both are dwarfism, micro- and brachycephaly, antimongoloid slant of the eyes, hypertelorism, ptosis, short nose, short philtrum, poorly formed ears, short neck with excess skin, barrel-shaped thorax, diastasis of rectus muscles, kyphosis, sacral dimple, excess of digital arches, pedes valgi, laterally curved big toes, epilepsy and muscular hypotonia. The chromosomal anomaly was transmitted by the mother, who is the carrier of a translocation t(19;20)(19q133;20pter). In the pedigree, extending over four generations, among 30 pregnancies fathered or mothered by 5 carriers resulted in: 6 individuals with normal karyotype, 9 carriers, 2 confirmed and 2 presumptive unbalanced abnormal children, and 10 abortions.

Abnormalities, Multiple↗