[Deletion of the long arm of chromosome 11].
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Biomedical subjects
Publications and source records attributed to J Nielsen.
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A survey of twin births in Denmark in relation to the total number of births from 1911 to 1974 shows a significant decrease in the dizygotic twin birth rate for all maternal age groups. The possible environmental causes of such a decrease are discussed.
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Previous reports have indicated an association between Yq+ in the family and increased risk of abortion. In a chromosome investigations of 11,148 consecutively newborn children, we found 58 boys with a large Y chromosome (Y/F equal to or greater than 1.00). The mothers of these boys had 22% abortions, compared with 13% among 4,895 mothers of children with normal karyotypes and without Yq+ (P less than 0.001).
The purpose of this study was to investigate whether 600-800 ml of fresh autologous blood, withdrawn just before anesthesia and retransfused at the end of the operation, would reduce early postoperative anemia. Thirty-nine patients undergoing abdominal hysterectomy were autotransfused, while 44, submitted to the same operation, served as controls. Appropriate amounts of lactated Ringer solution were infused during phlebotomy and operation. The cardiovascular system remained stable and diuresis high. Postoperative complications were few and did not prolong hospitalization. The mean peroperative blood loss per patient was 680 ml. Fresh autotransfusion did not improve early postoperative anemia.
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A 14-year-old boy presented with physical signs of the Silver-Russell syndrome. He further had low-set, large protruding ears, ptosis, broad nasal base, thick protruding lips, pronounced caried, malaligment of teeth, micrognathia and mental retardation. Chromosome examination showed deletion of the short arms of chromosome No. 18. It is concluded that considering the previous findings of chromosome No. 18 aberrations in some patients with Silver-Russell syndrome such patients should always have chromosome examination made.
A woman with deletion 14q as well as inversion 14 is presented, and physical signs are compared with those of patients with deletion long arm 13. No previous case of deletion long arm 14 has been published.
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In a representative sample of 3,840 males examined for military service chromosome examination was made in those with testes equal to or less than 12 ml and those with a stature equal to or greater than 181 cm, as well as in males not recruited because of physical or mental disability. Testes equal to or less than 12 ml were found in 59 patients (1.45%). Three of these males had a 47,XXY karyotype (5.1%), the prevalence among the total sample of 3,840 being 0.78 per 1,000. Hypogonadal signs, except for gynaecomastia, which was only present in one patient, were found in the saem proportion as in 47,XXY males ascertained in institutions and clinics. The results of EEG investigations were alos similar to those found in psychiatric institutions. The intelligence level was comparatively low; none had an IQ above 100. The personality traits corresponded to those found in institutionalized Klinefelter males.
A total of 1002 patients with cancer of the oesophagus seen at the Finsen Institute, Copenhagen, Radium Centre and/or Department of Surgery, during the 25-year period ending 31.12.1969, were analysed with a view to sex, age, localization of tumour, histology, and survival. The 5-year survival for all seen patients, corresponding to 25% of the cases recorded in the whole of Denmark, was 2.3%, the half-life 5.2 months, and the mean survival 7.5 months. After five years 18 of the 23 5-year survivors succumbed to recurrences. The prognosis is largely independent of sex, age, localization and histological type of tumour. In the present report no regard is paid to treatment, treatment variables being described in part II.
One hundred and eleven (16%) of 701 patients with gastric ulcers, admitted to Kommunehospitalet, Copenhagen, from 1955 to 1964, were 70 years of age of older. Of those elderly patients, 43 were treated surgically, 68 non-surgically. The incidences of hemorrhage and extragastric diseases were significantly greater in older patients, whereas the incidence of pain, site of pain, ulcer size, and location, incidence of combined ulcers and gastric retention did not differ from those observed in younger patients. The duration of symptoms was shorter in the aged, though the difference was not significant. Prognosis was less favourable in the aged, largely due to a higher incidence of hemorrhage (47%) and of accessory diseases (47%). The mortality in elderly patients suffering from hemorrhage and accessory diseases was 64% during hospitalization, but only 4% in patients without accessory diseases. Follow-up and autopsy studies of discharged patients revealed that ulcers healed in only half of the non-surgical patients and that surgery was ultimately necessary in 50% of these. It was concluded that the factors which prescribed surgical treatment in elderly patients with gastric ulcers did not differ considerably from those in younger patients. The risk was greater, but this was also true in non-surgical treatment. Close cooperation between surgeon and physician was essential, both pre- and postoperatively, since accessory diseases were very significant for the outcome.
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