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X-LINKED CONGENITAL ADRENAL HYPOPLASIA A Study of Five Generations of a Greenlandic Family 总被引:2,自引:0,他引:2
KNUD E. PETERSEN TORBEN BILLE B. BROCK JACOBSEN TORBEN IVERSEN 《Acta paediatrica (Oslo, Norway : 1992)》1982,71(6):947-951
ABSTRACT. In a Greenlandic family comprising 171 descendants in 5 generations, 11 boys had died with a clinical picture of adrenocortical insufficiency within three weeks of birth. Three treated male patients, who survived, were closely studied. The adrenal glands could not be identified by computed tomography. The clinical picture and biochemical studies were consistent with congenital adrenal hypoplasia. The pedigree indicates X-linked recessive inheritance. The pubertal development was delayed in two patients aged 14 years. LHRH stimulation yielded a significant rise in LH and FSH in at least one of the patients, adrenal androgen values were very low. A family instruction programme has been set up. 相似文献
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abstract — A follow-up study was made of repaired root fractures in 51 permanent anterior teeth, with a mean observation period of 6 years. The material was subdivided into three repair types (Figs. 1–3): Type 1—invisible or hardly discernible fracture line (15 teeth), Type 2—fragments separated by a narrow radiolucent line and peripheral rounding of the fracture edges (33 teeth), and Type 3—fragments separated by a distinct bony bridge (3 teeth). The majority of repaired teeth gave a normal or slightly decreased response to electric pulp tests and the mobility was physiologic or slightly increased. Reduced transparency or slight yellowish discoloration was observed in 14 teeth. The most conspicuous radiographic finding was pulp obliteration which occurred in 86%. Two different patterns were observed: (1) partial obliteration located in the apical fragments and the fracture area, and extending 0.5–4 mm into the coronal fragment, and (2) progressive obliteration of the entire pulp cavity ending with almost total obliteration. Pulp necrosis did not develop as a sequel to progressive obliteration in any case. Several different characteristics of the fracture influenced the repair pattern, the most important being the degree of fragment dislocation and mobility, stage of root development and localization of the fracture. Correlation between type of repair and various treatment procedures was observed only with regard to reduction. 相似文献
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JACOBSEN J. B.; NIELSEN H.; BRINKLOV H.; STOKKE D. B.; HARTMANN-ANDERSEN J. F. 《British journal of anaesthesia》1980,52(9):925-930
The efficiency of two patient-dependent, variable performancetechniques of oxygen therapy in relieving hypoxaemia after upperabdornir,al surgery was compared. A high-flow system delivereda humidified mixture of oxygen 2 litre min1 and air 13litre min1 through a cannula inserted into the anteriornares. The low-flow system delivered 2 litre min1 ofdry oxygen into the nasopharynx through a catheter. Thirteenotherwise healthy patients received either high-flow oxygentherapy for 30 mm followed by low-flow oxygen therapy for afurther 30 mm after operation or the same therapy in reverseorder. With the patients breathing room air, arterial hypoxaemiacould be demonstrated with Pao2 inversely related to age. Theincrease of Pao2 during either oxygen treatment was significantlygreater with the low flow system. 相似文献
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An ultrastructural examination of five syncytiotrophoblast-like cells (STLC) from three otherwise pure seminomas was performed. All five STLC demonstrated ultrastructural features identical to those of normal syncytiotrophoblastic cells. The STLC were surrounded by sinusoidal spaces and cells whose ultrastructure was compatible with that of seminoma cells, though the presence of cytotrophoblastic cells cannot be excluded with certainty. We conclude that STLC in seminomas are indeed syncytiotrophoblastic and their genesis remains an enigma. 相似文献
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