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L Tranebjaerg

Publications and source records attributed to L Tranebjaerg.

104 records · Page 6Linked to original sources
PubMed1987

New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.

A karyotype 46,XY,del(20)(q11 X 23q13 X 11) was found in a three year old boy with mental and growth retardation, low set ears, broad nasal bridge, and macrostomia. Adenosine deaminase (ADA) activity was reduced by about 50%, assigning the gene locus to the deleted segment. A review of the previously reported regional assignments suggests that the ADA gene is in the region of band 20q13 X 11.

Adenosine Deaminase↗
PubMed1985

Plasma antithrombin III concentration in patients on regular haemodialysis treatment.

Plasma concentration of antithrombin III (AT III) was measured by both immunological and functional assays before, during and after treatment with haemodialysis in 42 patients with chronic renal failure on regular long-term haemodialysis. Intravenous heparin administration during the haemodialysis session was found not to induce a consumption of the circulating AT III.

Adolescent↗
PubMed1984

Plasma and urine fibronectin concentration in kidney-transplanted patients.

Plasma and urine fibronectin concentration was determined by electroimmunoassay and ELISA-method in patients who received renal transplantation. The plasma fibronectin concentration decreased both after the transplantation, in relation to the acute rejection of the graft, and in the relation to immunosuppressive therapy. Urine fibronectin excretion increased in relation to the kidney transplantation and acute rejection of the graft. In association with improved kidney function, the urine fibronectin excretion decreased. It is suggested that it might be of clinical importance to determine the excretion of fibronectin into the urine in patients undergoing kidney transplantation.

Electrophoresis, Polyacrylamide Gel↗
PubMed1984

Clinical and cytogenetic studies in a large (4;8) translocation family with pre- and postnatal Wolf syndrome.

Partial deletion of 4p (Wolf syndrome) is reported in two cases resulting from paternal balanced t(4;8)(p163;p231). One of them was diagnosed prenatally and aborted. Autopsy revealed dysmorphic face, and malformed heart and kidneys. The other case, the mentally retarded sister, had no clinical signs of internal malformations, only slightly dysmorphic appearance. We concluded that loss of the terminal segment of 4p(4p163) seems sufficient to produce the clinical entity of Wolf syndrome, and partial trisomy of the short arm of chromosome 8 did not mask the 4p- phenotype. Segregation analysis showed risk figures of about 15% for a malformed child comparable to previously given figures concerning the outcome of autosomal reciprocal translocations.

Abnormalities, Multiple↗
PubMed1983

Plasma fibronectin concentration in patients with chronic renal failure and treated with haemodialysis.

By quantitative electroimmunoassay the plasma fibronectin concentration was determined in 42 patients with chronic renal failure and treated with haemodialysis. The plasma fibronectin concentration was significantly reduced, independent of the haemodialysis, compared to a control group. Delayed wound healing seen in patients with chronic renal failure might be a result of the reduced plasma fibronectin.

Adolescent↗
PubMed1983

Parathyroidectomy for hyperparathyroidism in maintenance dialysis patients.

Parathyroidectomy was performed during a 5-year period in 11 of 196 patients undergoing maintenance dialysis for renal failure. Characteristics of the series were relatively long periods of dialysis, severe symptomatic bone disease, hypercalcemia, increased alkaline phosphatase, greatly raised serum levels of immunoreactive parathyroid hormone and X-ray changes appearing as abnormal bone structure, metastatic calcifications and pathologic fractures. Most of the operations consisted of total parathyroidectomy alone or accompanied by autotransplantation of parathyroid tissue. Subjective and objective improvement followed the operation in most cases, and the outlined indications thus appeared to be adequate. However, only a minority of the patients became symptom-free, and current methods of treating autonomic hyperparathyroidism in patients on regular dialysis must be regarded as suboptimal. The relative indications for the 2 types of operations are discussed. Total parathyroidectomy may be an acceptable operation for patients of this category.

Adult↗
PubMedDate not supplied

X-linked mental retardation associated with psoriasis: a new syndrome?

Four males, the sons of 2 sisters, apparently have a new syndrome of mental retardation, seizures and psoriasis. Due to the relationship between the affected males we propose the inheritance to be X-linked recessive although cosegregation of two separate disorders may be occurring. Psoriasis has never been reported as a monogenic disorder. Results of cytogenetic studies, including fra (X) and high-resolution prometaphase analysis, were negative. Steroid sulfatase activities of cultured fibroblasts from 2 surviving affected males were normal. The results of HLA typing of all available relatives did not indicate a strong association between the skin disorder and certain HLA antigens. A healthy sister, who may be heterozygous carrier of the mutant X chromosome, decided on termination of 3 successive pregnancies after prenatal male sex determinations. Her fourth pregnancy with a female fetus is ongoing.

Adult↗
PubMedDate not supplied

Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.

Epidemiological studies have suggested that non-specific X-linked mental retardation (XLMR) might be at least as frequent as the fragile X syndrome. The identification of all mutations causing XLMR would thus appear of prime importance. In the absence of other clinical signs the problem of genetic heterogeneity is acute. This can be partly overcome by the analysis of large families. We have been able to perform linkage analysis in 3 such families. The condition in family 1 was described as clinically resembling the fra (X) syndrome by Proops et al [1983]: the kindred includes 7 affected males in 3 sibships. Family 2 from Denmark has affected males in 4 generations; however, several affected relatives in this extended pedigree are deceased. Family 3 from France counts 6 affected males in two sibships. The families were analysed with about 25 X-linked markers. Linkage with markers in Xp22.2-p22.3 was found in family 1: z(theta) = 2.62 at theta = 0.06 for DXS85 (probe 782). Suggestion of linkage was found in family 2 with both the Duchenne muscular dystrophy region (DXS164 in Xp21.2) and with DXS1 (Xq11-q12). In family 3, DXS159 (Xq12-q13) gave a lod score of 2.53 at theta = 0; results were compatible with localisation of the putative XLMR locus in this family proximal to DXYS1 (Xq21). These data suggest that at least two non-specific XLMR loci could exist, one in Xp22 and the other in the q12-q13 region.

Chromosome Mapping↗
PubMedDate not supplied

Prevalence of fra(X) and other specific diagnoses in autistic individuals in a Danish county.

In a Danish county (the island of Funen) cytogenetic screening for fragile X [fra(X)] of 32 autistic individuals aged 0-23 years showed a prevalence of 2/20 among boys and 0/12 among girls. In both cases additional fra(X) positive relatives were found. In 3 patients other chromosome aberrations were demonstrated and in one female Rett syndrome was diagnosed, initially suspected from observations of her behavior on videotapes. The presence of an underlying cause of autism in 6/32, of the patient group encourages an active search for a specific diagnosis among autistic males and females. Future screening of autistic individuals should include 1) fra(X) search also in females, 2) search for other chromosomal disorders, and 3) observation of behavior, in order to diagnose, i.e., Rett syndrome.

Adolescent↗
PubMedDate not supplied

New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families.

In 2 unrelated families 9 males presented with ataxia, apraxia, and neuropsychological abnormalities or mental deficiency, inherited as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. The symptoms were present in early childhood and were non-progressive. Additional findings in 2 males were congenital "club-feet" and generalized seizures. The affected males were 13-62 years old at the time of our examination. Chromosome abnormalities including fragile X fra(X) could not be demonstrated in any case. Results of metabolic screenings were also normal. The clinical picture with X-linked recessive inheritance distinguishes this syndrome from previously described inherited hereditary ataxias.

Adolescent↗
PubMedDate not supplied

Major depressive disorder as a prominent but underestimated feature of fragile X syndrome.

Three unrelated institutionalized mentally retarded males with fragile X syndrome presented major depressive disorders. Their depressive moods were long unrecognized because of the difficulties in assessing depressive symptoms in mentally retarded individuals. The genetic implications of establishing the diagnosis of this common heritable X-chromosome abnormality and the therapeutic consequences of detecting the depression are emphasized. Fragile X [fra(X)] may be a genetic predisposition to neuropsychiatric disorders with a variable range of manifestations. The fragile X syndrome may be helpful as a biologic model for studying the relationship between specific genetic factors and biological forms of psychopathology.

Adult↗
PubMedDate not supplied

Trisomy 22 mosaicism limited to skin fibroblasts in a mentally retarded, dysmorphic girl.

Less than 10 cases of trisomy 22 mosaicism have been reported. The patients have clinical features in common with both Down's and Turner's syndromes. We report on a 12-year-old girl, in whom the GFR-stimulated gonadotropine response suggested ovarian dysgenesis, although ovarian structures could be demonstrated by ultrasound. The diagnosis of trisomy 22 mosaicism was established by chromosome analysis of cultured skin fibroblasts following a negative lymphocyte culture.

Abnormalities, Multiple↗