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Biomedical subjects

K Wisniewski

Publications and source records attributed to K Wisniewski.

At least 37 records · Page 2Linked to original sources
PubMed1986

A profile of cognitive deficit in females from fragile X families.

Fragile X, a recently discovered X-linked syndrome, is usually associated with mental retardation in affected males. Less consistent findings have been described for females. neuropsychological evaluation of seven nonretarded females from fragile X families suggested a characteristic profile: on Wechsler IQ tests, a positive Verbal-Performance score difference and lower subtest scaled scores on Arithmetic, Digit Span, Block Design, and Object Assembly; on the Wide Range Achievement Test, a lower score on Arithmetic than on Reading or Spelling; and on the Benton Visual Retention Test, defective recall. These results suggest the existence of X-linked learning disability in females.

Achievement↗
PubMed1985

Adult fragile X syndrome. Clinico-neuropathologic findings.

Fragile X syndrome [fra (X)] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to Down syndrome in frequency, no postmortem studies of confirmed adult cases had been reported. The autopsy examination of a 62-year-old, moderately retarded man with the fra (X) syndrome confirmed the preferential involvement of cerebral and testicular structures in this disorder. Dendritic spine abnormalities of the type observed in trisomic chromosomal disorders were associated with synaptic immaturity. Severe testicular hypogonadism accompanied bilateral macro-orchidism, normal penis, and unilateral hydrocele. Valvular, articular, and testicular interstitial compartments showed normal histochemical staining characteristics for glycoproteins and lipids.

Brain↗
PubMed1985

Sanfilippo disease, type A with some features of ceroid lipofuscinosis.

Light microscopic, histochemical and electron-microscopic studies were made on the brain of a case (No. 1) with Sanfilippo disease, type A. In this case pigment preparations of the isocortex have been demonstrated. Ultrastructural investigations of the skin biopsies (his two male siblings) were also studied (cases 2, 3). Our three siblings of MPS III A, have demonstrated ceroid lipofuscin storage in the brain (case No. 1) and skin biopsies (cases No. 2 and 3) in addition to histological features of MPS. The biochemical studies (enzymatic identification) were made in the cultures of fibroblasts. Also, urine quantitative studies for MPS and N-sulfonate to hexosamino ratio were performed.

Adult↗
PubMed1985

Cystathionine disappearance with neuronal loss: a possible neuronal marker.

Cystathionine is an important intermediate in the transsulfuration pathway of methionine catabolism and is normally present in high concentration in the human CNS. We have measured the concentration of cystathionine, other amino acids, and brain proteins in the cerebral cortex, cerebellar cortex and spinal cord of two cases with ceroid lipofuscinosis. Neuropathological and biochemical studies of Case 1, at an advanced stage, Case 2, at an early stage, and five controls were correlated with clinical and neurological findings. The concentration of an unidentified 54,000 Dalton protein was greatly increased in Case 1 as observed by 2-D gel electrophoresis. Neurons and cystathionine were almost totally absent from the cortex and cerebellum of Case 1, while they were slightly reduced in Case 2, in comparison to control brains. These studies suggest that cystathionine may be specifically located within neurons. We present for the first time the observation that there was a strikingly low brain concentration of cystathionine, a potential neuronal marker, in an advanced stage of a neurodegenerative process.

Adolescent↗
PubMed1985

Effect of angiotensin II on some behavioral and neurochemical measures of the central serotonine system.

The effects of angiotensin II (AII) given intracerebroventricularly (icv.) on behaviors controlled by central serotonine (5-HT) and on some neurochemical measures of central 5-HT function have been investigated in rats. AII (0.1 and 0.5 micrograms) increased the 5-HT (20 micrograms, icv.) and L-tryptophan (200 mg/kg, ip.) induced hyposensitivity to painful electric stimuli delivered to the animals feet. Also AII (0.5 micrograms) intensified yawning, a 5-HT dependent behavior. This effect was decreased or abolished, respectively, by mianserin (3 mg/kg, i.p.) or cyproheptadine (1 mg/kg, i.p.), the 5-HT receptors blockers. AII, however, influenced neither the slight hyposensitivity of rats to electric current caused by 5-hydroxytryptophane (5-HTP, 12.5 and 25 mg/kg, ip.) nor the number of 'Wet-Dog' shakes evoked by 5-HTP (100 mg/kg, i.p.). Also, the peptide did change the rate of 5-HTP accumulation in brain measured after pretreatment of the animals with L-tryptophan (200 and 500 mg/kg, i.p.) preceded by the inhibition of central aromatic amino acid decarboxylase. In vitro AII (10(-5) - 10(-9) mol/l) did not affect release and only slightly increased uptake of 3H-5-HT by blood platelets. The data indicate that AII stimulates central 5-HT neurotransmission and that this action does not result from the peptide interference with the synthesis, release and uptake of 5-HT.

5-Hydroxytryptophan↗
PubMed1984

Distal duplication 14q: report of three cases and further delineation of the syndrome.

Three cases of distal duplication 14q are presented. The first two cases are cousins in a kindred segregating a balanced translocation t(14;18)(q31;q23). The third case resulted from a maternal translocation t(14;18)(q24;p11). By review of these cases and those previously reported, a distal duplication 14q syndrome is further delineated. Common features include postnatal growth retardation, mental retardation, hypotonia, microcephaly, slanted palpebral fissures, ocular hypertelorism, sparse eyelashes and eyebrows, nasal dysmorphism, tented lip, micrognathia, posteriorly rotated ears, and minor skeletal anomalies.

Adult↗
PubMed1984

Low sulfated glycosaminoglycans are excreted in patients with the Lowe syndrome.

Glycosaminoglycans (GAGs) were prepared from the urine of three patients and from normal individuals by cetylpyridinium chloride precipitation and Pronase digestion. The GAGs were analyzed by electrophoresis, anion-exchange chromatography, and enzymatic and chemical degradation. Each of the three patients showed a four- to fivefold increase in urinary GAG excretion compared to normal controls and in one patient a tenfold increase was measured during a period of behavioral agitation which included joint swelling. Urinary GAGs from affected individuals were characterized by a high proportion of low sulfated molecules. The predominant low sulfated component was chondroitin-4-sulfate (C4S); however, small amounts of chondroitin-6-sulfate (C6S) were also present. Heparan sulfate (HS) was present in normal proportion (5-10%) and most of it was not low sulfated. Abnormal excretion of chondroitin (Ch), hyaluronic acid (HA), and dermatan sulfate (DS) was not detected. These findings suggest that the clinical manifestations of Lowe syndrome may be caused by a defect in GAG metabolism.

Adolescent↗
PubMed1984

An autopsy case of hemimegalencephaly.

This case report is a neuropathological study of a ten-month-old infant with unilateral megalencephaly . In this anomaly neuronal migration defect and disturbances of cortical organization resulting in micropolygyria were the most striking neuropathological feature.

Astrocytes↗
PubMed1983

Lissencephaly: two distinct clinico-pathological types.

The present study is a review of four new cases of lissencephaly and two others previously reported. This study demonstrates that lissencephaly is a gross feature of the brain occurring in two different groups of cortical malformations. The first group, the classic agyria syndrome extensively analyzed by Jellinger and Rett [8] includes two types of abnormal cortical organization. They may be found in familial syndromes and also can appear sporadically. The second group includes smooth brains with the internal features of polymicrogyria and a more severely disorganized cortex. This type appears in familial lissencephaly in the cerebro-oculo-muscular syndrome, belonging to the same group as Fukuyama congenital-cerebro-muscular dystrophy. The other incidences of this type of cortical malformation require further investigation. The clinico-pathological differential diagnosis of two types of lissencephaly are also discussed.

Abnormalities, Multiple↗
PubMed1983

A clinical neuropathological study of the fetal alcohol syndrome.

Five patients with the clinical diagnosis of fetal alcohol syndrome (FAS) died at the ages of 8 and 4 months and 17, 4 and 2 days. Neuropathological examination revealed microencephalic brains in all cases, without morphological evidence of maturation delay. One of them showed agenesis of the corpus callosum and hypoplasia of the cerebellar vermis. Five of them had only small dysgenetic changes, consisting mainly of glio or glioneuronal meningeal or parenchymal heterotopias. Our findings indicate that the brain is commonly but not affected in FAS. The influence of alcohol and its metabolites, as well as undernutrition, and use of other drugs by the mothers, should be taken into account as possible etiologic factors.

Abortion, Spontaneous↗
PubMed1983

Monosomy 21 syndrome: further delineation including clinical, neuropathological, cytogenetic and biochemical studies.

Only six cases of living newborns with apparently complete monosomy 21 have been reported. All the previous cases with the exception of the present case died between 3 weeks and 20 months. Only one of these cases had a postmortem examination. The subject of this report was previously described at the age of 6 years (Davis et al. 1976). He survived until 11 years old and is the oldest known case of complete monosomy 21. We report here the clinical presentation over 11 years, results of gene dosage studies, cytogenetic analysis, and the neuropathological postmortem examination.

Aneuploidy↗
PubMed1983

Atypical Down syndrome and partial trisomy 21.

A case of "atypical" Down Syndrome (DS), where the proposita did not exhibit all of the clinical features of DS and had de novo partial trisomy 21, was studied. Results from phenotypic, chromosome banding and superoxide dismutase (SOD) gene dosage studies suggest a karyotype of 46,XX,-12,+t(12pter to 12qter::21q21 to 21q22.?2). Additional studies of such atypical cases will provide more precise sublocalization for both gene and phenotypic mapping of the bands that are responsible for the DS phenotype.

Child↗
PubMed1983

Production and characterization of monoclonal antibodies specific for a glycosylated polypeptide of human cytomegalovirus.

Nine hybrid cell lines producing antibodies specific for cytomegalovirus (CMV) antigen were obtained after fusion of P3/X63-Ag8 myeloma cells with spleen cells from BALB/c mice immunized with CMV complement-fixing antigen. By the immunoblot technique, five of nine antibodies (4D11, 7B4, 7D2, 8E3, and 8E10) were identified as being reactive to a CMV glycosylated polypeptide with molecular weight of 66,000 (GP66). Four other antibodies (1B8, 8E9, 4D2, and 7E2) appeared to be reactive with CMV antigen(s) only if the antigen was not denatured by sodium dodecyl sulfate. These remain unassigned until further studies are done. With the enzyme-linked immunosorbent assay (ELISA), competitive bindings were performed with a constant amount of horseradish peroxidase-conjugated antibody and various concentrations of unconjugated homologous and heterologous antibodies on CMV antigen-coated ELISA wells, and the antigenic determinant specific for each antibody was determined. The nine antibodies could be classified into six different groups, each group reacting with a different epitope or a different region with two or more antigenic determinants which are so close to each other that they cause binding inhibition. They are groups A (4D11), B (7B4, 8E10), C (7D2), D (4D2, 7E2, 8E9), E (8E3), and F (1B8). The extent of competition among antibodies within each group was the same. By using the two antibodies that reacted with different epitopes on GP66, a double-antibody sandwich ELISA method was developed. The method was sensitive enough to detect as little as 50% of the antigen present in one infected cell or 0.000245 U of CMV complement-fixing antigen per test well. Other strains of CMV (David, Kerr, Espilat, C-87, and five clinical isolates) gave positive results, whereas herpes simplex virus types 1 and 2, varicella-zoster virus and Epstein-Barr virus nuclear antigen preparations did not. By the indirect immunofluorescence assay, antibodies 4D11 and 8E3 were able to detect GP66 in the nucleus of CMV-infected F-5000 human embryonic fibroblasts as early as 2 h postinfection and were superior in this respect to the remaining seven antibodies tested. By the double-antibody sandwich ELISA, the presence of GP66 in CMV-infected cells was detected as early as 2 h postinfection.

Antibodies, Monoclonal↗