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J Beckmann

Publications and source records attributed to J Beckmann.

At least 37 records · Page 2Linked to original sources
PubMed1997

A comparative study of post-operative psychosocial function in women with primary operable breast cancer randomized to breast conservation therapy or mastectomy.

In a randomized patient series of 184 women suffering from primary operable breast carcinoma, psychosocial adjustment to breast-conserving therapy (BCT) vs mastectomy (M) was analysed retrospectively, including: (i) a comparison of intergroup characteristics; (ii) patient experience of the quality of professional pre-operative information; and (iii) the extent to which influence on choice of treatment was required. Using LASA (Linear Analogue Self-Assessment Scale), STAI (State-Trait Anxiety Inventory), and a semi-structured interview, no psychosocial benefits were found in BCT compared with M. Mean observation time was 31 months (range: 15-65). Body image was less impaired in BCT than in M. Both groups scored highly on professional information, but reported reduced ability to take in such information in the peri-operative period. Both groups tended to depend on the surgeon when choosing between surgical options. Irrespective of primary therapy, women must still confront the fact that they have had cancer, a life-threatening disease which may recur. A need for further research into peri-operative information procedures was demonstrated, and some suggestions were derived concerning the surgeon's role in deciding on surgical options.

Adaptation, Psychological↗
PubMed1996

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.

A series of patients affected by a muscular dystrophy, similar to the original description of a juvenile scapulo-humeral form by Erb in 1884 and fitting with the criteria used to define limb-girdle muscular dystrophies, was discovered in a small community living in the southern part of Reunion Island in the Indian Ocean. A detailed clinical analysis was conducted over 5 years on a cohort of 20 patients. This community presented a high degree of consanguinity as it was segregated from the majority of the island population for more than a century. In previous molecular genetic studies, the disease locus has been mapped to chromosome 15p. Mutations were recently identified in a gene located in this region encoding for muscle-specific calcium activated neutral protease (CANP3). Clinical, pathological, genetic and complete identification of the mutations are presented here, establishing, for the first time, precise clinico-genetic correlations in this form of autosomal recessive, juvenile, limb-girdle muscular dystrophy (LGMD).

Adolescent↗
PubMed1995

Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1.

A refined genetic map of the spinocerebellar ataxia 2 locus was constructed through linkage and haplotype analysis of 11 large pedigrees from the Holguín SCA2 family collective. Three-point analysis makes a localization of the SCA2 mutation in the 6-cM interval D12S84-D12S79 likely. This is consistent with haplotype results indicating a crossover event between two branches of the SCA2 family Rs and placing the mutation on the telomeric side of D12S84. The microsatellite D12S105 within this interval shows a peak two-point lod score of Z = 16.14 at theta = 0.00 recombination and complete linkage disequilibrium among affected individuals. These data together with the observation of a common disease haplotype among all family ancestors support the notion of an SCA2 founder effect in Holguín province.

Adolescent↗
PubMed1995

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.

Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease characterized by a ventricular hypertrophy predominantly affecting the interventricular septum and associated with a large extent of myocardial and myofibrillar disarray. It is the most common cause of sudden death in the young. In the four disease loci found, three genes have been identified which code for beta-myosin heavy chain, cardiac troponin T and alpha-tropomyosin. Recently the human cardiac myosin binding protein-C (MyBP-C) gene was mapped to chromosome 11p11.2 (ref. 8), making this gene a good candidate for the fourth locus, CMH4 (ref. 5). Indeed, MyBP-C is a substantial component of the myofibrils that interacts with several proteins of the thick filament of the sarcomere. In two unrelated French families linked to CMH4, we found a mutation in a splice acceptor site of the MyBP-C gene, which causes the skipping of the associated exon and could produce truncated cardiac MyBP-Cs. Mutations in the cardiac MyBP-C gene likely cause chromosome 11-linked hypertrophic cardiomyopathy, further supporting the hypothesis that hypertrophic cardiomyopathy results from mutations in genes encoding contractile proteins.

Amino Acid Sequence↗
PubMed1994

Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity.

Familial juvenile nephronophthisis (NPH) is an autosomal recessive progressive tubulo-interstitial kidney disorder, responsible for 6-10% of end-stage renal failure in children, and is frequently associated with Leber amaurosis (termed Senior-Løken syndrome). The biochemical basis of NPH is unknown. We recently reported linkage of the purely renal form of NPH to three markers on chromosome 2. Our results also suggested the existence of genetic heterogeneity between NPH and SLS. To map this NPH gene more precisely, we have now tested the segregation of six new microsatellite markers and five additional families. Haplotype analyses show unequivocally that four NPH families are not linked to the chromosome 2 markers, although there are no clinical or pathological features discernible in these families that could separate them from the families linked to the chromosome 2 NPH locus (NPH1). This reveals genetic heterogeneity in the purely renal form of NPH. In situ hybridization of YAC clones isolated with two closely linked markers assigned the NPH1 region to 2q13. Furthermore, based on haplotype analysis and specific recombination events, the NPH1 gene has been placed between D2S293/D2S340 and D2S121, a genetic interval of about 5-7 cM.

Chromosomes, Human, Pair 2↗
PubMed1994

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa.

It has been previously shown in Tunisian and Algerian families that the locus for SCARMD maps to the proximal part of 13q, and in Algerian families that the disease is associated with deficiency of the 50 kDa dystrophin associated glycoprotein (50DAG). We have tested this linkage in six families from Morocco where this disease is also prevalent. In one family the 50DAG was tested and found to be negative in a muscle biopsy. Our results showed similar linkage in this country, with statistical tests indicating genetic homogeneity between the three Maghreb countries.

Algeria↗
PubMed1994

Nonlinear effects of chicken endogenous viruses on body weight may be responsible for maintaining these elements in a stable genetic polymorphism.

The effects of presence or absence of individual endogenous virus (ev) genes on production traits was studied in a highly productive commercial layer cross. Age and BW at first egg, egg production, egg weight, and mature BW were recorded for each bird. The birds were examined for presence of ev gene fragments by Southern analysis. A general linear model was used to determine significance of effects of the 21 individual ev fragments on the individual traits and the effects of all ev fragments taken together on each of the traits. Seven significant effects were found for individual ev fragments on individual traits. Four of these involved BW at first egg, and all ev gene fragments taken together had a significant effect on BW at first egg, explaining 17% of total phenotypic variation in this trait. Significant nonlinear correlations were found between total number of ev genes and both BW at first egg and mature BW, with birds having a moderate number of ev genes showing the lowest BW. For age at first egg and egg weight, nonlinear correlations, although not significant, were consistent in sign with those found for BW, implying minimum trait magnitude at moderate number of ev genes. These effects imply that animals with intermediate numbers of ev genes will tend to be favored by commercial selection in layer flocks, whereas birds with either too many or too few ev genes will tend to be culled.(ABSTRACT TRUNCATED AT 250 WORDS)

Alpharetrovirus↗
PubMed1993

Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.

Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder, the disease locus (FRDA) of which has been assigned to 9q13-q21.1 by genetic linkage analysis in affected families. We report two large inbred Tunisian families with FA manifestations that did not show the expected linkage. The disease locus could be excluded from a large (12 cMo) region around FRDA. This is the first report providing evidence for nonallelic genetic heterogeneity for the FA clinical phenotype. On subsequent analysis, all patients had very low levels of serum vitamin E whereas the parents and healthy sibs had normal vitamin E levels. This establishes that the selective vitamin E deficiency with normal fat absorption is an autosomal recessive trait, which is associated in the two families reported here with the FA phenotype.

Adult↗
PubMed1992

Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families.

Familial hypertrophic cardiomyopathy (FHC) is characterized by idiopathic myocardial hypertrophy, which often and predominantly involves the interventricular septum. The disease is transmitted as an autosomal dominant trait, and its major risk is sudden death. It was recently demonstrated that this disease is genetically heterogeneous and that in 13 of 18 unrelated families the morbid locus, termed FHC-1, maps to chromosome 14q11-12 in and/or very near the cardiac beta-myosin heavy chain gene. We have performed linkage analysis with five chromosomal markers detecting polymorphisms in either the cardiac beta-myosin heavy chain gene or the cardiac actin gene (located on chromosome 15q) on eight families from different regions of France. We show that 1) it is possible to analyze medium-sized families by using highly informative microsatellite markers located in these genes and 2) the disease is not linked to the two contractile protein genes in any of these families. Moreover, 10-20% of chromosome 14 and 20-40% of chromosome 15 in the vicinity of the respective markers were excluded as possible locations for the morbid locus. These results provide new insights into the identification of the genes responsible for FHC.

Actins↗
PubMed1992

Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.

Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning. The two closest DNA markers, D9S5 and D9S15, show very tight linkage to FRDA, making difficult the ordering of the three loci. We present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15. Haplotype data were used to investigate genetic homogeneity of the disease in these geographically related families. A meiotic recombination was found in a nonaffected individual, which excludes a 150-kb segment, including D9S15, as a possible location for the Friedreich ataxia gene and which should orient the search in the D9S5 region.

Adolescent↗
PubMed1992

Conceptual views on quality of life.

Quality of life can be discussed in many ways. One way is to analyse the empirical quantitative approach to determine whether the research categories are operational, empirically unambiguous, and thematically relevant; progress, in the sense of changing the number of research categories, does not take place through a systematic empirical test but through a modification of the theory of quality of life. The current debate on quality of life has included a conflict between natural science and a humanistic approach. Our view is that quality of life must be defined through the difficult concept of happiness. When cancer threatens happiness, not one but two fundamental crises influence quality of life, which we regard as a key concept of a therapeutic method.

Adaptation, Psychological↗
PubMed1991

Elimination of flecainide as a function of urinary flow rate and pH.

In order to evaluate the influence of urinary flow rate at different pH values on the pharmacokinetics of the basic antiarrhythmic drug flecainide 7 healthy men received 50 mg flecainide under 4 different conditions: 1. acidic urine (pH 5) and a high fluid load (125 ml.h-1) 2. acidic urine (pH 5) and a low fluid load (25 ml.h-1) 3. alkaline urine (pH 8) and a high fluid load (125 ml.h-1) 4. alkaline urine (pH 8) and a low fluid load (25 ml.h-1) At acidic pH the half-life, the amount of unchanged drug in the urine (Ae), renal clearance (CLR) and area under the curve (AUC) were independent of the fluid load. At alkaline pH Ae (5.8 vs 2.6 mg) and CLR (73 vs 33 ml.min-1) were significantly affected by fluid load (high vs low), whereas half-life and AUC were not different (15.7 vs 16.0 h, 1480 vs 1540 ng.ml-1.h). When comparing acidic and alkaline urinary pH conditions, half-life, Ae, CLR, and AUC were different. For a high fluid load the values at acidic vs alkaline pH were half-life 10.0 vs 15.7 h; Ae 15.9 vs 5.8 mg; CLR 288 vs 73 ml.min-1; AUC 976 vs 1480 ng.ml-1.h. For a low fluid load the corresponding values at acidic vs alkaline pH were half-life 10.1 vs 16.0 h; Ae 15.9 vs 2.6 mg; CLR 267 vs 33 ml.min-1; AUC 1045 vs 1540 ng.ml-1.h. It is concluded that urinary pH affects flecainide pharmacokinetics independently of urinary flow rate, and that a high flow enhances the elimination of flecainide only with an alkaline urine. This effect of flow rate does not appear to be of clinical relevance.

Ammonium Chloride↗