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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Monosomy or deletion of chromosome 7 is a frequent finding in both de novo and secondary acute myeloid leukaemia (AML) and myelodysplastic syndromes (MDS). Based on analysis of deletions of chromosome 7 in such patients, it has been suggested that there is a critical region of the chromosome lying within bands q21-q31. We have examined bone marrow and peripheral blood samples from 10 patients with MDS, AML and biphenotypic acute leukaemia who had monosomy for or rearrangement of chromosome 7, seeking evidence of non-random allele loss that might suggest the presence of imprinted genes on the chromosome. Bone marrow cells from one patient with the infant monosomy 7 syndrome had loss of maternal alleles as did two patients with biphenotypic leukaemia. Five out of five patients with MDS and both patients with de novo AML had loss of paternal alleles. One of the latter patients had a del(7) (q31q36) rather than monosomy 7. These findings suggest that imprinting of a gene(s) on chromosome 7, within the bands q31-q36, may be of importance in MDS and AML. Despite the reported increased incidence of AML amongst relatives of patients with cystic fibrosis (CF) the gene for which lies in chromosome region 7q31, none of the patients nor parents studied here appeared to be carriers of the most common gene mutation seen in patients with CF, the delta F508.
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PMID:Possible evidence for genomic imprinting in childhood acute myeloblastic leukaemia associated with monosomy for chromosome 7. 158 Dec 12

A peptide prepared from purified factor 13B (F13B) was sequenced, and a single, long oligonucleotide corresponding to its cognate DNA sequence was constructed and used to screen a chromosome 7 specific genomic library. The positive clone isolated, designated pKV13, was only related to F13B at the oligonucleotide region, but has proved to be a valuable chromosome 7 marker. pKV13 maps to 7pter-q22 in hybrid cell lines, and is present in a chromosome-mediated gene transfer (CMGT) cell line that also contains met and other 7q probes. pKV13 defines a common MspI restriction fragment length polymorphism (RFLP), and is genetically linked to two markers on the long arm of chromosome 7, B79a and COLIA2, both themselves linked to the cystic fibrosis locus. Multipoint linkage analysis demonstrates that KV13 maps centromeric to both B79a and COLIA2. pKV13 has been used to demonstrate the existence of rearrangements within CMGT hybrids, and will also prove valuable in multipoint linkage studies of other 7q markers. Finally, pKV13 provides a new polymorphic locus for the characterisation of 7q deletions in myeloid disorders such as myelodysplastic syndrome.
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PMID:Isolation of a polymorphic genomic clone from chromosome 7. Physical and genetic linkage studies to markers around the cystic fibrosis locus. 288 18

This study measures continuity in behavioral disturbance over a 5-year period among 255 children with physical disabilities who were 6 to 18 years old at first assessment. The pattern of the results differed from that reported previously for a sample of the general population of children. Disabled children showed little stability in aggression, an area in which stability over time had been consistently reported for the general child population. Furthermore, important differences were observed between children with cystic fibrosis and children with cerebral palsy, myelodysplasia, or multiple physical handicaps, all conditions involving brain abnormality. Children with cystic fibrosis followed the trend toward better adjustment seen among the general population of children. In contrast, among children with conditions involving the brain, the majority of those who had been classified as psychologically severely impaired remained at this level of impairment 5 years later. In two behavioral domains, Mentation Problems and Isolation, children with conditions involving the brain maintained, on the average, the same markedly high score they had initially. Among children with physical conditions involving the brain, Mentation Problems and Isolation signify persistent problems that do not subside as the children mature.
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PMID:Psychological disturbance in children with physical disabilities: continuity and change in a 5-year follow-up. 315 73

We examined the impact of child disability on psychological distress in mothers, by comparing scores on two indexes of psychological distress of 369 mothers of children with cystic fibrosis, cerebral palsy, myelodysplasia, or multiple physical handicaps, with those of 456 mothers from a randomly selected sample of families ("control" subjects). Mothers of disabled children scored significantly higher than control subjects on both indexes of psychological distress. This finding persisted when the mothers' education, family income, and racial composition were controlled for. Type of disability, ie, the diagnostic classification of the disabled children, was unrelated to the mother's level of psychological distress. In contrast, the disabled child's dependence on others in daily activities had a significant effect on both measures of psychological distress; the more dependent the child, the greater was the mother's distress.
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PMID:Psychological distress in mothers of disabled children. 621 43

This study examined the appropriateness of siblings as controls in the psychological assessment of children with chronic illness or disability. Findings from 304 cases and 360 randomly selected controls were compared to findings from a subset of 206 case-sibling pairs. Cases were children 6 to 18 years of age with cystic fibrosis, cerebral palsy, myelodysplasia, and multiple handicaps, selected from specialty clinics in two teaching hospitals in the Cleveland area. Results from both data sets were in agreement on major findings indicating that children with cystic fibrosis are not at increased risk for psychopathology, whereas children in the remaining three diagnostic groups show a substantial excess in Mentation Problems and Isolation. The comparisons with matched siblings underestimated pathology in the disabled children in Regressive-Anxiety and aggressive behavior.
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PMID:The psychological study of chronically ill and disabled children: are healthy siblings appropriate controls? 622 46

Hospitalization and use of outpatient health care services during a 1-year period by 369 pediatric patients with cystic fibrosis, cerebral palsy, myelodysplasia, or multiple physical handicaps and 456 randomly selected children without congenital conditions from the Cleveland area were examined. Use of hospitalization and outpatient services by the average chronically ill or disabled child was 10 times that of the average comparison child. Physician specialists, occupational and physical therapists, and school nurses were the major outpatient categories used disproportionately by children with chronic illnesses or disabilities. The major share of health care used by children with chronic conditions was attributable to a small subset of children: All hospital care was accounted for by one third of the children, and three quarters of all outpatient care was accounted for by one quarter of that sample. Hospital care was used at similar rates by the four diagnostic groups. However, amount and type of outpatient care varied by diagnosis, level of functional impairment, race, and income. Estimated average expenditure for health services used by the chronically ill or disabled sample was 10 times that of the comparison sample. Relative distribution of estimated expenditures across types of services differed for the two samples as well as among diagnostic categories.
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PMID:Use of health services by chronically ill and disabled children. 623 34

This paper reports findings from a comprehensive study of families of pediatric patients with cystic fibrosis, cerebral palsy, myelodysplasia, and multiple handicaps receiving care in clinics of two teaching hospitals in Cleveland. In 239 families with normal siblings 6 to 18 years old, mothers completed the Psychiatric Screening Inventory for a randomly selected sibling in this age group. Results were compared to data on 1,034 randomly selected children from a cross-section of Manhattan households. The proportion of siblings with serious impairment was not significantly different from the Manhattan sample. Although on the total inventory siblings did not score significantly higher than the comparison sample, they did score significantly higher on the mentation problems, fighting, and delinquency subscales. The diagnostic categories of the disabled children had no significant effect on siblings' scores, nor did level of disability. Neither siblings' sex nor age bore any relationship to their psychologic functioning. A sibling's birth order in relation to the disabled child had a significant interaction effect with sex on psychiatric impairment. Little relationship was found between a mother's perceived effects of caring for a disabled child on attention to siblings and sibling's disorder.
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PMID:Psychologic functioning of siblings of disabled children. 645 7

The effect of continuity of physician on satisfaction with medical care was examined in a sample of 370 families of disabled children receiving care from four specialty clinics of teaching hospitals. Families of children with myelodysplasia, cystic fibrosis (CF), cerebral palsy and multiple physical handicaps were included. A comparison of scores on the eight scales of the Patient Satisfaction Questionnaire across the four clinics revealed marked and consistent differences: patients of cystic fibrosis clinic scored significantly higher than patients of other clinics on most scales. Multiple regression analysis in which source of care (CF clinic versus other clinics), continuity of care, waiting time and patient and family characteristics (income, race, education, level of disability) were used as predictors indicated that continuity of care accounted for a large part of the association between source of care and satisfaction. Further, when continuity of physician and waiting time in the clinic were held constant, patients of the CF clinic were indistinguishable from patients of other clinics in their satisfaction with doctors and with medical care. Further analysis revealed that continuity of care contributed to patient satisfaction not only in a clinic that constitutes a patient's principal source of care, but also in a clinic in which only specialized care is given, excluding care for intercurrent illnesses or immunizations.
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PMID:Seeing the same doctor: determinants of satisfaction with specialty care for disabled children. 645 72

Three siblings from Morocco consanguineous family presented with cutaneous poikiloderma following postnatal ichthyosiform lesions, associated with papillomatous lesions, palmoplantar keratoderma, pachyonychia of toenails, fragile carious teeth, and lachrymal duct obstruction. Photosensitivity and blistering improved with age. Atrophic scars were prominent on the limbs. Neutropenia developed in the first year secondary to dysmyelopoiesis affecting the granulocyte lineage, associated with a polyclonal hypergammaglobulinemia. Several broncho-pulmonary infectious episodes complicated the evolution, and cystic fibrosis was first considered on the basis of repeated abnormal sweat chloride tests but not confirmed by molecular analyses. This autosomal recessive disorder matches that described originally as poikiloderma with neutropenia-Clericuzio type in Navajo Indians (OMIM 604173). It is discussed within the group of the major hereditary poikiloderma disorders, that is, Rothmund-Thomson syndrome, dyskeratosis congenita, and Kindler syndrome.
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PMID:Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. 1892 63