Search PubMed⌕ Search

Biomedical subjects

A Wahlin

Publications and source records attributed to A Wahlin.

At least 37 records · Page 2Linked to original sources
PubMed2000

Congenital dyserythropoietic anemia type III.

BACKGROUND AND OBJECTIVES: Congenital dyserythropoietic anemia type III (CDA-III) is a group of very rare disorders characterized by similar bone marrow morphology. The clinical picture is characterized by hemolytic anemia and dramatic bone marrow changes dominated by active erythropoiesis with big multinucleated erythroblasts. The aim of this review is to describe the clinical manifestations, laboratory findings, and management CDA-III. EVIDENCE AND INFORMATION SOURCES: The present review critically examines relevant articles and abstracts published in journals covered by the Science Citation Index and Medline. The authors have performed several studies on CDA-III. STATE OF ART AND PERSPECTIVES: The clinical and laboratory manifestations of CDA-III indicate that the gene responsible for it, which has been mapped to chromosome 15q22, is expressed not only in erythroblasts during mitosis but also in B-cells, and in cells of the retina. Preliminary results indicate genetic and phenotypic similarities between a Swedish and an American family, both with an autosomally dominant inherited form of CDA-III. It is possible that the genetic lesion is identical in these families, but the different phenotypes and modes of inheritance reported among some other cases of CDA-III are probably the results of other genetic lesions. At present, the function of the gene responsible for the Swedish (V sterbotten) variant of CDA-III (CDAN3) is unknown and it is an important goal to characterize and clone this gene in order to study its function.

Anemia, Dyserythropoietic, Congenital↗
PubMed1999

Further evidence on the effects of vitamin B12 and folate levels on episodic memory functioning: a population-based study of healthy very old adults.

BACKGROUND: The relationship between vitamin status and cognitive functioning has been addressed in several recent studies with inconclusive results. The purpose of this study was to examine separate and combined effects of serum vitamin B12 and folic acid on episodic memory functioning in very old age. METHODS: Four study groups were selected from a population-based sample of healthy very old adults (90-101 years of age): normal B12/normal folic acid, low B12/normal folic acid, normal B12/low folic acid, and low B12/low folic acid. Cutoff levels were set at 180 pmol/L for vitamin B12 and at 13 nmol/L for folic acid. Subjects completed two episodic recall tasks (objects and words) and two episodic recognition tasks (faces and words). RESULTS: Neither vitamin affected recognition or primary memory. Most interesting, although B12 was unrelated to recall performance, subjects with low folic acid levels showed impairment in both word recall and object recall. CONCLUSIONS: These results replicate and extend previous findings that folic acid may be more critical than B12 to memory functioning in late life. The selective effects of folic acid on episodic recall were discussed in terms of encoding and retrieval mechanisms, as well as in relation to brain protein synthesis.

Aged↗
PubMed1999

[Localized gene of the rare "Norrland disease". CDA-III blood disease with dominant heredity].

The article consists in a review of available knowledge of the rare blood disorder, congenital dyserythropoietic anaemia, type III (CDA-III), a disease characterised by autosomal dominant heredity, and mild to moderate haemolytic anaemia. The gene causing CDA-III has been localised on chromosome 15q22. Most patients are adapted to their disease, and have few or no overt manifestations. Bone marrow examination yields a characteristic picture of erythroid hyperplasia and multinucleate erythroblasts. A Swedish family affected with CDA-III has been reported to be characterised by a high prevalence of monoclonal gammopathy and angioid streaks, a triad suggested by the authors to represent a hitherto unreported syndrome.

Anemia, Dyserythropoietic, Congenital↗
PubMed1999

Depression does not aggravate the episodic memory deficits associated with Alzheimer's disease.

In a population-based study of persons between 75 and 96 years of age, normal old adults (n = 296), patients with Alzheimer's disease (AD; n = 45), and patients with concomitant AD and depression (AD-D; n = 9) were compared on free recall and recognition of slowly and rapidly presented words and digit span. With the exception of forward digit span, the normal old group outperformed the 2 AD groups across all tasks. In free recall, only the normal old group performed better as task pacing decreased; however, all groups benefited from more study time in recognition. This suggests that both AD and AD-D patients have deficits in the ability to use more study time for remembering. Of most importance, the 2 AD groups were indistinguishable for all task variables. This lack of comorbidity effects is discussed relative to the view that depression, much like many other individual-difference variables that affect memory performance in normal aging, may be overshadowed by the influence of the neurodegenerative process in AD.

Aged↗
PubMed1999

Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders.

A number of genes are involved in iron metabolism, including the transferrin receptor (TFR) and haemochromatosis (HFE) genes. In previous investigations an increased risk for neoplastic disease has been observed in individuals homo- and heterozygous for hereditary haemochromatosis. The HFE wild-type gene product complexes with the transferrin receptor (TF) and two different HFE mutations (Cys282Tyr and His63Asp) have been found to increase the affinity of TFR for TF and increase cellular iron uptake. In a recent study we found no associations for HFE and TFR separately, but an interaction between HFE and TFR genotypes in multiple myeloma. Individuals carrying the HFE Tyr282 allele (homo- and heterozygotes) in combination with homozygosity for the TFR Ser142 allele had an increased risk. In the present study the same association was found in breast and colorectal cancer. The odds ratio for all three neoplasms combined was 2.0 (95% CI 1.0-3.8). The risk for neoplastic disease was further increased (OR 7.7, 95% CI = 1.0-59.9) when the analysis was restricted to HFE Tyr homozygotes and compound heterozygotes in combination with TFR Ser homozygosity. Thus, an interaction between HFE and TFR alleles may increase the risk for different neoplastic disorders.

Alleles↗
PubMed1998

Influences of thyroid stimulating hormone on cognitive functioning in very old age.

This study investigated the relationship of thyroxine (T4) and thyroid stimulating hormone (TSH) within normal ranges to cognitive performance in very old age. The participants (N = 200) were selected from a population-based study of nondemented persons aged 75 to 96 years (M = 83.9 years). Tasks assessing episodic memory, verbal fluency, visuospatial ability, short-term memory, and perceptual-motor speed were examined. Results indicated that T4 was unrelated to performance. However, TSH was positively related to episodic memory performance, and the effects were independent of the influence of age, level of education, and depressive mood symptoms. There was no reliable effect of TSH on verbal fluency, short-term memory, perceptual-motor speed, or visuospatial functioning. The influence of TSH on episodic memory was interpreted in terms of its potential effects on encoding and consolidation processes.

Affect↗
PubMed1998

Intestinal permeability in patients with acute myeloid leukemia.

Intestinal permeability was studied in patients with acute myeloid leukemia (AML) before, during and after chemotherapy. Intestinal permeability was determined by the lactulose (La)/mannitol (Ma) absorption test in 16 adult patients with de novo AML. The hydrogen breath test was used to disclose bacterial fermentation of the test substances in the small intestine. The permeability was found significantly increased (p<0.02) in the patients before induction chemotherapy treatment. During induction treatment and throughout the cytopenic period the intestinal permeability was constantly and significantly increased, compared with controls. In patients with abnormally increased permeability, no increase in hydrogen breath test result was noted. From our results it can be concluded that increased intestinal permeability is present in AML patients before commencing chemotherapy. Factors other than chemotherapy would seem to be more important regarding the occurrence of intestinal disturbances in these patients.

Acute Disease↗
PubMed1997

Angioid streaks are part of a familial syndrome of dyserythropoietic anaemia (CDA III).

Congenital dyserythropoietic anaemia type III (CDA III) is a rare disease inherited in an autosomal dominant way and characterized by mild to moderate haemolytic anaemia. Most patients are adapted to their disease and have no or few complaints. Bone marrow examination shows a characteristic picture with erythroid hyperplasia and multinucleate erythroblasts. 20% of patients in a Swedish family affected with the CDA III condition have monoclonal gammopathy or multiple myeloma. By linkage and recombination analysis in the same family, the gene linked to the CDA III condition (CDAN3) has been located to chromosome 15q22. In this paper we report the observation of visual disturbances with macular degeneration and angioid streaks in six patients with CDA III and discuss the apparent association between CDA III, angioid streaks and monoclonal gammopathy. We suggest that this triad forms a previously unreported syndrome.

Adult↗
PubMed1997

Outcome of a multicenter treatment program including autologous or allogeneic bone marrow transplantation for de novo acute myeloid leukemia.

The results of an intensive treatment program for patients 16-60 yr of age with de novo acute myeloid leukemia are presented. The patients were given conventional induction treatment with daunorubicin and cytarabine. Patients not entering complete remission (CR) after 1 course of daunorubicin/cytarabine were given 1 course of amsacrine/etoposide/cytarabine. Those entering complete remission received 3 consolidation courses using mitoxantrone, etoposide, amsacrine and cytarabine. One hundred and eighteen patients were enrolled. Complete remission was attained after 1-2 courses in 90 patients (76%). Another 6 patients reached CR after 3-4 induction courses for a total CR rate of 81%. If feasible, patients were offered either allogeneic or unpurged autologous bone marrow transplantation. Twenty-four patients underwent allogeneic bone marrow transplantation; 15 in first remission, 8 in second remission, 1 in early relapse. Thirty patients below 56 yr of age underwent autologous bone marrow transplantation in first remission. The overall probability of survival at 4 yr was 34%, and for patients below 40 yr of age 50%. Leukemia-free survival was 35% for the whole cohort of patients; 52% for patients below 40 yr of age. Patients undergoing allogeneic or autologous bone marrow transplantation in first remission had an overall survival of 86% and 47%, respectively, while the probability of leukemia-free survival in these groups was 87% vs. 40% at 4 yr. The CR rate and long-term results of this intensive treatment program compare favorably with other recent studies using intensive consolidation with allogeneic or autologous bone marrow transplantation or high dose cytarabine.

Acute Disease↗
PubMed1996

Effects of serum vitamin B12 and folate status on episodic memory performance in very old age: a population-based study.

We examined the relationship between low levels of serum vitamin B12 (< 200 pmol/L) and folic acid (< 11 nmol/L), separately or combined, and episodic memory performance in very old age. Participants with low serum vitamin values were compared with a control group matched for age and educational level. Participants (N = 250) were selected from a group of nondemented, community-dwelling persons ages 75-96. Episodic memory was tested by means of free recall and recognition of slowly and rapidly presented words. Results indicated a deterioration in both free recall and recognition as a function of serum vitamin status. However, no linear effects of vitamin levels on memory were observed, indicating that vitamin B12 and folic acid status may effect memory only among individuals at the low end of the distribution. We speculate that the vitamin-related memory deficit may reflect encoding problems, possibly due to alterations in brain metabolism.

Age Factors↗
PubMed1995

The role of demographic and life style variables in utilizing cognitive support for episodic remembering among very old adults.

This research investigated the influence of individual difference variables within demographic and life-style domains on episodic recall tasks in which the level of cognitive support increased incrementally. The community-based sample consisted of 253 healthy older adults taken from the Kungsholmen parish in Stockholm, Sweden. Utilizing hierarchical regression procedures, two questions were addressed with regard to the selected individual difference variables: (a) the degree to which they could predict episodic recall and (b) whether they differentially influenced the magnitude of performance gains from the provision of cognitive support in the form of study time, item organizability, and retrieval cues. The results showed that age was negatively related to performance, whereas education and participation in social activities exerted a positive influence on performance. Exercise was also positively related to performance, but only in the least supported tasks. With regard to utilization of cognitive support, education was positively related to performance benefits from more study time and item organizability, age was negatively related to the effect of item organizability, and social activity was positively associated with the ability to benefit from retrieval cues. These results highlight the role of individual difference measures in episodic memory functioning in late adulthood and indicate that these variables are important in predicting the extent to which older adults are able to utilize cognitive support to enhance episodic recall.

Adaptation, Psychological↗
PubMed1995

Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25.

Congenital dyserythropoietic anemia, type III (CDA III) is a rare autosomal dominant disorder characterized by macrocytic anemia, bone marrow erythroid hyperplasia and giant multinucleate erythroblasts. We have genetically characterized a large Swedish family in which the concurrence of CDA III and myeloma or benign monoclonal gammopathy is significantly higher than expected and have found that the causative genetic defect for CDA III maps to an 11 cM interval within 15q21-q25.

Anemia, Dyserythropoietic, Congenital↗
PubMed1995

Myelodysplastic syndromes--a population-based study on transformation and survival.

A retrospective analysis was done on 113 patients (median age 73 years) with myelodysplastic syndromes (MDS), consecutively diagnosed at our center during a 10-year period. Patients with refractory anemia (RA) and refractory anemia with ringed sideroblasts (RARS) had significantly longer survival than patients with refractory anemia with excess blasts (RAEB), chronic myelomonocytic leukemia (CMML) or refractory anemia with excess blasts in transformation (RAEB-T). Thirty-seven patients (33%) subsequently developed acute myelogenous leukemia (AML). The percentages of AML transformation for the subgroups were: RA: 26%, RARS: 14%, RAEB: 38%, CMML: 25% and RAEB-T: 69%. A total of 9 patients received high-dose chemotherapy, 7 of them already at the time of MDS diagnosis. Six of the RAEB-T patients entered complete and two partial remission. The median age in the group of RAEB-T patients was significantly lower (62 years) than in the other MDS subgroups. It seems that high-dose chemotherapy, at least in RAEB-T, may induce complete remission and improve survival time.

Adult↗