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At least 109 records · Page 6Linked to original sources
PubMed1977

Multiple leukocyte abnormalities in chronic granulomatous disease: a familial study.

A variety of leukocyte enzyme activities were studied in an 11-year-old female with chronic granulomatous disease (CGD) and several members of her family. Leukocyte glucose-6-phosphate dehydrogenase (G-6-PD) activity was 17 nmol/min/mg protein in the patient; two brothers with symptoms of recurrent bacterial infections have G-6-PD activities of 58 and 37 nmol/min/mg protein; the activites of this enzyme in both parents, maternal grandmother, and one additional brother were within normal limits. Storage at 4 degrees or heating at 37 degrees over a 120-min period revealed a marked lability of G-6-PD activity in the patient's cells which could not be stabilized by the addition of NADP and 2-mercaptoethanol; this lability was not seen in other family members tested. Activities of leukocyte glutathione reductase were reduced in both parents and the two affected male siblings with values of 18, 23, 23, and 24 nmol/min/mg protein, respectively. Activities of leukocyte glutathione peroxidase were reduced in all of the immediate family members tested, with values ranging from 11.2 to 43 nmol/min/mg protein; the activity of this enzyme in the patient was 38.5. Leukocyte NADP content in the patient, father, and two affected male siblings were 16.5, 23.4, 22.2, and 28.2 nmol/15 min/10(7) leukocytes, respectively.

Adolescent↗
PubMed1990

Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.

The cloned argininosuccinate synthetase gene from a citrullinemia patient's fibroblast cell line revealed a single base substitution (G to C) within the splice acceptor site of the last intron. The mutation abolished normal RNA splicing, and, by cDNA analysis, three abnormal splicing pathways were demonstrated. The major pathway involved the activation of a cryptic acceptor site in the last exon that resulted in a deletion of seven nucleotides in the mature RNA. Another pathway involved a downstream cryptic acceptor site, that is 388 nucleotides downstream from the first cryptic site. Northern blot analysis showed that this second cryptic site is present on the minor 2.7-kilobase mRNA, but not on the major species of argininosuccinate synthetase mRNA, which is 1.7-kilobases in length. Using this aberrant cDNA as a probe, the cDNA of the 2.7-kilobase mRNA was isolated and studied. Sequence analysis suggests that this species of RNA is the one that bypasses the polyadenylation signal employed by the 1.7-kilobase RNA. Since both transcripts encounter the same translation termination codon, both RNAs should encode identical protein. Furthermore, a tract of 22 repeats of d(CA).(GT) is found at the 3' end of the gene and this repeat sequence is present on the 2.7-kilobase RNA. The third pathway of the abnormal splicing revealed a rare class of transcript that has the last intron retained in the mature RNA. This study shows that in human the intron inclusion can occur through a naturally occurring point mutation. All these abnormally spliced RNAs resulted in a protein reading frame shift.

Amino Acid Metabolism, Inborn Errors↗
PubMed1977

Anaesthetic considerations on von Recklinghausen's disease (multiple neurofibromatosis). Abnormal response to muscle relaxants.

Two cases of abnormal response to muscle relaxants in patients with von Recklinghausen's disease are reported and the literature is reviewed. A 31 year-old female showed high sensitivity to both suxamethonium and tubocurarine, and 57 year-old male showed also high sensitivity to tubocurarine. Anaesthetic problems which might be encountered in patients with von Recklinghausen's disease are concomitant phaeochromocytoma, renal hypertension, kyphoscoliosis, deformity of the spine, and intralaryngeal neurofibroma.

Adult↗
PubMed1992

[The state of the immune system in children with congenital abnormalities].

As many as 618 children with different varieties of congenital developmental abnormalities were examined for the status of the immune system. Immunologic studies were carried out in 89 patients. They included the NBT test, determination of the content of T-, B- and O-lymphocytes, IgA, IgM and IgG. Morpho-histological studies of the spleen and thymus were performed according to the data of 529 autopsies. It has been established that 3/4 of cases with congenital developmental abnormalities are characterized by morphofunctional immune deficiency, which is more pronounced in multiple abnormalities (of chromosomal etiology in particular) as well in some systemic abnormalities, largely of the CNS.

Abnormalities, Multiple↗
PubMed1990

Childhood myelodysplasia: suggested classification as myelodysplastic syndromes based on laboratory and clinical findings.

Fourteen children with a primary myelodysplastic syndrome (MDS) were seen at this center over a 10-year period. Six of the patients, including two pairs of siblings, had a monosomy 7 population in their bone marrow. Seven patients had the clinical and laboratory features of "juvenile chronic myeloid leukemia." Three patients could be considered to have either the monosomy 7 syndrome or "juvenile chronic myeloid leukemia," indicating that these two entities are not mutually exclusive. All patients fulfilled the French-American-British (FAB) criteria for a myelodysplastic syndrome. Clonal chromosomal abnormalities were detected in 13 of the 14 patients, and consistently involved either monosomy 7, multiple abnormalities, and/or multiple clones. Hematopoietic progenitor assays of blood and marrow samples obtained from most patients showed abnormal progenitor frequencies, or differentiation patterns in culture (or both), often affecting the erythroid as well as the granulopoietic lineages. In particular, granulopoietic progenitors from four to six patients in the "juvenile chronic myeloid leukemia" category generated predominantly abnormal appearing macrophage colonies. Clinical outcomes were poor with rapid transformation to acute myeloid leukemia in most patients. All treated patients responded poorly to conventional chemotherapy, although in two cases remission was achieved with intensive therapy and allogeneic bone marrow transplantation. Childhood myelodysplasia includes a group of diseases that are clinically heterogeneous, and current terminology is confused and inconsistent. Until a better understanding of the biologic and molecular basis of these diseases is obtained, it is proposed that the use of the FAB categories developed for adult MDS might help to improve diagnostic precision and therapeutic comparisons.

Adolescent↗
PubMed1979

Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat.

An additional small G-like chromosome was found in a newborn female with multiple abnormalities and hemorrhagic diathesis. G banding showed that the index patient was trisomic for the short arm of chromosome 8 and revealed the anomaly t(8;15)(q12;p11) in her mother. The relationship between chromosome 8 and multiple hemorrhages is discussed.

Abnormalities, Multiple↗
PubMed1991

Multiple sclerosis with abnormal cerebrospinal fluid--a case report.

Multiple sclerosis is an uncommon demyelinating condition in Singapore. The commonest mode of presentation here is in the form of Devic's syndrome. Although our patients here have shown classical findings with respect to clinical features, neuroimaging studies and electrophysiologic tests, abnormal cerebrospinal fluid changes have not been reported locally. We report the first case of multiple sclerosis with abnormal cerebrospinal fluid changes. We also reviewed cerebrospinal fluid changes in multiple sclerosis and recent advances in laboratory techniques of cerebrospinal fluid analyses.

Adolescent↗
PubMed1991

The evaluation of the germinal mutagenic impact of Chernobyl radiological contamination in Hungary.

The genetic consequences of radioactive fall-out deposition from the Chernobyl (USSR) accident in Hungary was evaluated as a part of the ongoing programme on the population-based Hungarian Surveillance of Germinal Mutations. The surveillance is based on three groups of indicator conditions: 15 sentinel anomalies (indicators of germinal dominant gene mutations), Down's syndrome (an indicator of germinal numerical and structural chromosomal mutations) and unidentified multiple congenital abnormalities (indicators of germinal dominant gene and chromosomal mutations). Cases with these indicator conditions were selected from the material of the Hungarian Congenital Abnormality Registry. After the diagnostic accuracies were checked, familial and sporadic cases were separated. Only the latter group was evaluated for evidence of new mutations. The analysis did not reveal any measurable germinal mutagenic effects of the Chernobyl accident. Furthermore, there were no significant differences in the rates of these three groups of indicator conditions between regions with higher and lower increased background radiation.

Abnormalities, Multiple↗
PubMed1990

[Contribution of magnetic resonance imaging in 100 cases of refractory partial epilepsy with normal CT scans].

One hundred epileptic patients were included in this study according to the following criteria: intractable partial epilepsy, normal CT scan and focal EEG abnormalities. Eighty-nine patients were suffering from complex partial seizures of temporal or frontal origin, 55 and 34 cases respectively. Eleven patients presented with only simple partial seizures. MRI was abnormal in 31 patients. The abnormalities were: focal T2 increased signal intensity (13 cases) most often temporal (10 cases), cryptic arteriovenous malformation (4 cases), focal T1 and T2 signal abnormality (4 cases), focal atrophy (2 cases) and multiple abnormal T2 signals scattered in the white matter (8 cases). The site of MRI abnormalities was consistent with electroclinical data in 22 patients, of whom 20 had a temporal lobe epilepsy. Thus MRI proved to be more often abnormal in temporal than in frontal lobe epilepsy (36 p. 100 and 5.9 p. 100 respectively) when the CT scan is normal. However MRI data, particularly focal T2 hypersignals should be confronted to electroclinical and metabolic findings whenever functional surgery is considered.

Adolescent↗
PubMed1991

Lysosomal hydrolases of different classes are abnormally distributed in brains of patients with Alzheimer disease.

beta-Amyloid formation requires multiple abnormal proteolytic cleavages of amyloid precursor protein (APP), including one within its intramembrane domain. Lysosomes, which contain a wide variety of proteases (cathepsins) and other acid hydrolases, are major sites for the turnover of membrane proteins and other cell constituents. Using immunocytochemistry, immunoelectron microscopy, and enzyme histochemistry, we studied the expression and cellular distributions of 10 lysosomal hydrolases, including 4 cathepsins, in neocortex from patients with Alzheimer disease and control (non-Alzheimer-disease) individuals. In control brains, acid hydrolases were localized exclusively to intracellular lysosome-related compartments, and 8 of the 10 enzymes predominated in neurons. In Alzheimer disease brains, strongly immunoreactive lysosomes and lipofuscin granules accumulated markedly in the perikarya and proximal dendrites of many cortical neurons, some of which were undergoing degeneration. More strikingly, these same hydrolases were present in equally high or higher levels in senile plaques in Alzheimer disease, but they were not found extracellularly in control brains, including those from Parkinson or Huntington disease patients. At the ultrastructural level, hydrolase immunoreactivity in senile plaques was localized to extracellular lipofuscin granules similar in morphology to those within degenerating neurons. Two cathepsins that were undetectable in neurons were absent from senile plaques. These results show that lysosome function is altered in cortical neurons in Alzheimer disease. The presence of a broad spectrum of acid hydrolases in senile plaques indicates that lysosomes and their contents may be liberated from cells, principally neurons and their processes, as they degenerate. Because cathepsins can cleave polypeptide sites on APP relevant for beta-amyloid formation, their abnormal extracellular localization and dysregulation in Alzheimer disease can account for the multiple hydrolytic events in beta-amyloid formation. The actions of membrane-degrading acid hydrolases could also explain how the intramembrane portion of APP containing the C terminus of beta-amyloid becomes accessible to proteases.

Aged↗
PubMed1992

[Chromosomal abnormalities in carcinoma and hyperplasia of the prostate].

Epithelioid cells that had grown in short-term cultures derived from 10 cases of adenocarcinoma (PCa) and 10 cases of hyperplasia (BPH) of the prostate were karyotyped by the G-banding method for the pathogenesis of these disease. PCa specimens included 4 well, 2 moderately, and 4 poorly differentiated types, and were obtained by perineal needle biopsy from 4 patients in stage B and 6 patients in stage D2. Cells liberated from metastatic lymph node lesions of 2 patients with poorly differentiated PCa were also analyzed directly without cultivation in vitro. All BPH specimens were obtained by prostatectomy, and cells that had grown in epithelioid pattern in short-term cultures were analyzed. In PCa, hyperploidy was seen in all but 2 cases. Structure analysis disclosed abnormality of chromosome 16 in 4 PCa, deletion of Y in 3 PCa, abnormality of chromosomes 7, 14, 15, 18, and 19 in 2 PCa, and abnormality of chromosomes 3, 4, 17, and 21 in 1 PCa. Multiple markers were observed in 1 patient, and hyperploidy in another patient with metastatic lymph nodes. All but 2 cases of BPH were diploid. Normal male karyotypes were seen in 6 BPH. Trisomy of chromosomes 7 and 16 were observed in 2 BPH. Of 4 patients with stage B PCa, 3 who have been alive for 3 years to date had multiple abnormalities, whereas 1 patient who died 2 years after diagnosis had few abnormalities.(ABSTRACT TRUNCATED AT 250 WORDS)

Adenocarcinoma↗
PubMed1975

Radioisotopic detection of osseius metastases. Evaluation of 99mTc polyphosphate and 99mTc pyrophosphate.

A total of 146 patients were investigated for the presence of osseous metastases with 99mTc polyphosphate or 99mTc pyrophosphate bone scans. Results of bone imaging were retrospectively compared to roentgenographic results surveying similar anatomic areas in 128 patients. This comparison revealed that roentgenographic interpretations were in error in 19% of the cases. Thirty-three patients had bone scans and roentgenograms that were in agreement and considered abnormal, but in more than one third of these cases the patients had multiple abnormalities that were shown by the bone scan but were not recognized roentgenographically. In consideration of the low toxicity, ready availability, economy, shortened procedure time, and low radiation dose associated with the use of these new bone-seeking agents, it is concluded that they are superior to roentgenograms and previously utilized radionuclides for early detection of osseous metastases.

Bone Neoplasms↗