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Biomedical subjects

P Møller

Publications and source records attributed to P Møller.

At least 19 recordsLinked to original sources

[Cytogenetic diagnosis in leukemia].

Cytogenetic diagnosis of leukemia was taken into use at the Norwegian Radium Hospital in late 1988. The article presents results from the period 1989-90. The samples arrived the laboratory on the same day they were obtained from the patients, and the results indicate that the transport had no effect on outcome. The success rate (obtained by cytogenetic diagnosis) was 82%. Among the persons who were diagnosed successfully, 66% showed clonal abnormalities. Diagnostic and prognostic implications are discussed.

Chromosome Aberrations

[Treatment of defecation blockade caused by deep recto-vaginal fossa with total pelvic floor reconstruction using a prolene-net].

The causes of severe defaecation blockage resulting from compression of the rectum and deep recto-genital fossa are reviewed and are illustrated by three patients who had previously undergone hysterectomy and who had incapacitating defaecation blockage and abdominal pain requiring morphine in two of the patients. The condition had not been diagnosed despite previous hospital contact for many years in two of the patients. Complete reconstruction of the pelvic floor with prolene net was performed. Subsequent defaecography showed normalization of defaecation without rectal compression and with relief of the abdominal pain and dependence on morphine in two of the patients. Rectal compression resulting from an abnormally deep recto-genital fossa should be included in the differential diagnostic deliberations in patients with severe constipation and defaecation blockage. Complete reconstruction of the pelvic floor with prolene net is considered, in the preliminary findings, to be a reasonable alternative in the treatment of this condition.

Adult

[Hereditary cancer].

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Dysplastic Nevus Syndrome

No evidence for constitutional chromosome instability in testicular cancer.

Chromosome aberrations in 20 lymphocytes of 20 patients with testicular germ cell tumors (TGCT) treated with surgery alone were compared with those of 20 cells from 20 healthy controls using standard G-banding technique. No increase in structural aberrations was found in the cancer group. An unexpected finding was that of more cells with losses of chromosomes being present in the control group. These losses predominantly affected small chromosomes in the control group, whereas the pattern of chromosome loss was different in the cancer group. The literature claiming increased chromosome instability in TGCT patients is reviewed. Point estimates and 95% confidence intervals to exclude such a hypothesis based on our results were calculated.

Adult

High resolution chromosome banding in search of germ line mutations applied on testicular cancer patients.

Patients with bilateral and/or familial testicular cancer are assumed to demonstrate germ line mutations if such mutations are instrumental in testicular cancer patients. Constitutional rearrangements have to our knowledge not been reported, while an increased level of constitutional chromosome instability has been claimed. Lymphocytes from 12 Norwegian patients with bilateral or familial testicular cancer have been studied by high resolution Giemsa banding. A possible germ line mutation would be expected to be seen in every cell. It is therefore sufficient to examine one pair of the individual chromosomes obtained, if necessary, from several cells. Based on our previous findings of loss of heterozygosity in the chromosome regions 3p and 11p in testicular tumors, these chromosome arms were paid special attention. However, no mutations were observed in these regions nor in any other chromosome. Applying a 95% confidence interval, we conclude that less than 23% of familial and/or bilateral testicular cancer patients are caused by germ line mutations large enough to be detected with high resolution banding of at least 450 G-bands per haploid genome. The presented analyses were used to standardize the resolution determination in our laboratory.

Adolescent

Transtympanic ventilator tubes in the treatment of seromucous otitis. Indications and results.

400 patients with bilateral secretory otitis media (SOM) were treated with ventilating tubes (VT) in a prospectiv study. The ear drums were normal on both sides before VTs treatment thus allowing ear drum changes and complications during VT treatment to be recorded. 618 VT were placed in the ear drum after suction of the fluid. In 182 patients unilateral myringotomy with suction of fluid were done and VT placed in the contralateral ear. Adenoidectomy with myringotomy, with an obstructing adenoid, gave 30% better chance. 10 different VTs were used. The most frequent pathology found in the ear drum after one period of VT treatment was tympanosclerosis. In the ears only treated with myringotomy tympanosclerosis occurred in 1%. 3 factors seemed to give more tympanosclerosis: metal (stainless steel or titanium), polyethylene and prolonged stay-time in the ear drum. Chronic perforations of the ear drum occurred with great variations between the different tubes. The Goode modified T-tube caused perforations in 17%. In the other VTs the perforations occurred in 2.1%. Chronic perforation together with tympanosclerosis will happen more often when the VT is made of polyethylene compared to silicone or fluoroplastic (p < 05). 90% of the perforations were located at the site of the VT. The ideal VT will stay in for 8-18 months at an average and it can be shown to improve middle ear function better than only waiting or myringotomy. Long-term VTs should not be used at the first VT procedures.

Adenoidectomy

Stapedectomy versus stapedotomy: a comparison.

Two hundred and fifty consecutively operated stapes procedures operated by the author for otosclerosis are presented. A fat-wire stapedectomy prostheses (Schuknecht) was used in 152 cases and a Fisch teflon-wire piston was used in 98 ears. Of the 250 procedures 33 patients had bilateral surgery. The operations were done in local anaesthesia in most cases and with endomeatal incision. The fat-wire prostheses gave in 95% a closure within 10 dB and the rest 5% closed within 11-20 dB. The Fisch teflon-wire piston gave a closure within 10 dB in 87%, within 11-20 dB in 12% and within 21-30 dB in 1%. The speech reception was better after operation in 97% of patients operated with the fat-wire prostheses and in 99% of patients having the teflon-wire piston. It was a significant difference at 20 dB level of speech improvement (p < 02) in favour of the teflon-wire piston. The surgery for otosclerosis is a special procedure seeking refinements in surgical techniques to increase safety and maintain acceptable results. Our results show that the small fenestra technique with 4 mm piston will give better speech reception and better hearing in the high frequencies. To achieve a high standard the operations for otosclerosis should probably be centralised to let the surgeon do a minimum of 8 to 10 procedures every year.

Humans

[Coloanal reservoir in low rectal cancer].

On the basis of a case history a method of treating low rectal cancer is presented. The method includes resection of the rectum and mucosal protectomy with establishment of a colo-anal reservoir.

Adenocarcinoma

Karyotyping of a hematologic neoplasia developing shortly after treatment for cerebral extragonadal germ cell tumor.

Hematologic malignancies may be associated with mediastinal extragonadal germ cell tumors. It may be that the hematologic malignancy is a part of the natural history of the teratoma, one germ cell tumor line being able to differentiate into hematological cells, or the hematologic malignancy is related to the treatment, or the two malignancies develop independently. Cytogenetic analysis of bone marrow from a patient with a germ cell tumor in the brain and the almost simultaneous appearance of a hematologic neoplasia showed a rearranged karyotype in that all 15 analyzed cells had the same karyotype: 50,XY, +X, +del(1)(p21), +10, +11, -12, +der(12)t(12;?)(q?;?). Our findings were consistent with the interpretation that the hematologic malignancy was derived from the germ cell tumor.

Adult

Malignant mesenchymoma of the scrotum.

Paratesticular sarcomas are rare, especially the malignant mesenchymoma. To our knowledge only four cases of paratesticular malignant mesenchymoma have been described previously. All were localized to the spermatic cord. We present a case of malignant mesenchymoma in the scrotum free of the spermatic cord.

Genital Neoplasms, Male

[Prenatal ultrasonic diagnosis and Down's syndrome].

A total of 8,923 children were born at the Regional Hospital, Trondheim, Norway between 1 January 1986 and 30 June 1989 to mothers from surrounding municipalities. Among these children, 14 were diagnosed after birth as having Down's syndrome. A proportion of 85% of the pregnant women in these municipalities had had a routine examination with ultrasound in the 16th to 22nd weeks of gestation at the Ultrasound Laboratory at the Regional Hospital. Ten of the children/fetuses with Down's syndrome in the study population had been subjected to a routine scan. Five of the ten were suspected to have Down's syndrome after the routine scan, and the diagnosis was confirmed by prenatal chromosomal analysis. (All these five fetuses were examined in 1987-88, which means that five of seven were detected in 1987-88). Another two fetuses (out of three) were suspected to have Down's syndrome after an ultrasound scan later in pregnancy. The diagnoses were confirmed by chromosome analyses after birth. One fetus was diagnosed in a 38 year old woman by amniocentesis in the 15th week of gestation. Our study suggests that routine ultrasonic scans can detect a significant proportion of fetuses with Down's syndrome in the second trimester.

Down Syndrome

Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia.

Patients who are homozygous for ataxia-telangiectasia (AT) have an exceptionally high incidence of cancer. Heterozygous individuals for the disease have been reported to be at an increased risk of cancer, particularly breast cancer in female carriers. We have analyzed eight Norwegian families with AT for cancer incidence in the parents, in the parents' sibs, grandparents, and grandparents' sibs. Two of the obligate heterozygote females have had premenopausal breast cancer. This incidence is significantly higher than expected for that group. No increase in the cancer incidence was observed in the parents' sibs, the grandparents, or the grandparents' sibs. Since the incidence of AT is low, data from many sources have to be combined to allow any conclusion.

Ataxia Telangiectasia

Otitis media with effusion: can erythromycin reduce the need for ventilating tubes?

Otitis media with effusion (OME) is a common condition among children and is characterized by nonpurulent fluid in the middle ear and fluctuating conductive hearing loss. Most children will spontaneously regain normal air-filled middle ears, but a certain number will have persistent problems. In our department we will treat annually about 500 children on an outpatient basis, with the insertion of ventilating tubes in the eardrum. The reason for this study was to evaluate the effect of erythromycin, instead of inserting a ventilation tube, in children with bilateral OME of longer duration than three months (double blind/placebo). The study comprises 147 children, 1-15 years of age, 83 boys and 64 girls, all with OME for more than three months. All the patients were candidates for tube insertion. In the group treated with erythromycin, 12 patients out of 69 had bilaterally air-filled middle ears after one month, as compared to 19 out of 72 in the group treated with the placebo. No difference was noted due to sex or age. The results support our indication and timing for ventilation tube insertion.

Adolescent

Spinal muscular atrophy type I combined with atrial septal defect in three sibs.

All three children of an unrelated Norwegian couple were born with spinal muscular atrophy (SMA I) as confirmed by autopsy in two of them. Two of the children died at birth, whereas one lived for 7 weeks on support systems that included artificial ventilation. All three children had large atrial septal defects (ASD). One had valvular aortic stenosis. Another had arrhinencephaly and transient pleural effusion which was evacuated during pregnancy. The findings may reflect concurrence of unrelated disorders caused by genetic or environmental factors, segregation of linked genes, pleiotropism or the existence of a previously unknown disease.

Abnormalities, Multiple

HLA-B27 is necessary but not sufficient.

It is discussed why some, but not all HLA-B27-positive persons get disease when triggered by certain infections. The conclusions are that a possible modifying gene may be found on the other HLA haplotype or outside the HLA complex. Given an epidemic infection afflicting a family, it is the possible differences of other environmental factors which may be of interest, not a further description of the infection initially recognized. The familial clustering of disease is based upon modifying genetic factor(s) and/or environmental factor(s) shared by the family members. Timing of the environmental factors may be instrumental. Penetrance of genetic predisposition may also depend on coincidence of randomly occurring environmental factors.

Cluster Analysis

[Gene technology in the prevention of cancer].

Cancer may develop in connection with rare, genetic diseases or after exceptional, environmental exposures. Most commonly, however, cancer results from an unhappy coincidence of normal, genetic factors and ordinary, environmental conditions. Oncogenes are normal growth genes. Anti-oncogenes are normal regulatory genes which control growth genes. Cancer may result from changes (mutations) in an oncogene (such as in the Philadelphia chromosome), or from the lack of control of normal oncogenes. The latter may be due to loss of function of a suppressor gene (mutation in an anti-oncogene, such as in retinoblastoma) or through a change in the position of an oncogene (such as in Burkitt's lymphoma and in certain leukemias).

Biomarkers, Tumor

[Physiology and physiopathology of defecation].

The normal physiology of defaecation is reviewed with the object of understanding pathological defaecation. The significance of investigation of anorectal physiology in cases of disturbance of defaecation is emphasized in view of further understanding of the basic mechanisms and offers of rational therapy.

Anal Canal