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14 results on '"J. Gustafsson"'

4. [Diagnosis and treatment of fetal congenital adrenal cortex hyperplasia]

Author

K H, Gustavson, A, Larsson, S J, Nillius, J, Gustafsson, T, Tuvemo, M, Ritzén, B, Haglund-Stengler, and H, Luthman

Subjects
Adult, Male, Fetal Diseases, Adrenal Hyperplasia, Congenital, Pregnancy, Prednisolone, Prenatal Diagnosis, Infant, Newborn, Humans, Female, Dexamethasone
Published
1986

8. [APS I--a severe autoimmune disease with endocrine and non-endocrine symptoms].

Author

Gustafsson J, Alimohammadi M, Ekwall O, Gebre-Medhin G, Halldin-Stenlid M, Hedstrand H, Landgren E, Nilsson T, Rorsman F, Sköldberg F, Winqvist O, and Kämpe O

Subjects
Addison Disease genetics, Addison Disease immunology, Adrenal Insufficiency genetics, Adrenal Insufficiency immunology, Adult, Alopecia genetics, Alopecia immunology, Alopecia pathology, Autoantibodies genetics, Candidiasis, Chronic Mucocutaneous genetics, Candidiasis, Chronic Mucocutaneous immunology, Child, Chromosomes, Human, Pair 21 genetics, Diabetes Mellitus, Type 1 genetics, Diabetes Mellitus, Type 1 immunology, Hepatitis, Autoimmune genetics, Hepatitis, Autoimmune immunology, Humans, Hypoparathyroidism genetics, Hypoparathyroidism immunology, Malabsorption Syndromes genetics, Malabsorption Syndromes immunology, Vitiligo genetics, Vitiligo immunology, Polyendocrinopathies, Autoimmune genetics, Polyendocrinopathies, Autoimmune immunology, Polyendocrinopathies, Autoimmune pathology
Abstract

Autoimmune polyglandular syndrome type I (APS I) is an autosomal recessive disorder characterized by a combination of autoimmune manifestations affecting endocrine and non-endocrine organs. APS I usually presents in childhood. The three most common manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and Addison's disease. At least two of these must be present to fulfill the diagnostic criteria of this syndrome. The spectrum of other associated diseases includes gonadal insufficiency, alopecia, vitiligo and chronic active hepatitis. APS I is caused by a mutation in the AIRE-gene (autoimmune regulator) located on chromosome 21. Analysis of specific autoantibodies against intracellular enzymes, particularly enzymes in the synthesis of steroids and neurotransmittors, can be used in the diagnosis of APS I and to predict different manifestations of the disease.

Published
2004

9. [Prospective assessment of 1,270 trauma cases in Lund. A national registry could improve the quality].

Author

Gustafsson J, Lenninger K, Ribbe E, and Andrén-Sandberg A

Subjects
Clinical Competence, Emergency Service, Hospital statistics & numerical data, Humans, Prognosis, Prospective Studies, Registries, Sweden epidemiology, Trauma Severity Indices, Traumatology standards, Traumatology statistics & numerical data, Triage, Emergency Service, Hospital standards, Quality Assurance, Health Care, Wounds and Injuries diagnosis, Wounds and Injuries epidemiology, Wounds and Injuries mortality
Published
1996

10. [Skeletal dysplasia. Medical interdisciplinary care is necessary for optimal treatment].

Author

Gustavson KH, Annerén G, Axelsson O, Eriksson L, Gustafsson J, Lönnerholm T, and Rehnberg L

Subjects
Bone Diseases, Developmental diagnostic imaging, Bone Diseases, Developmental genetics, Diagnosis, Differential, Female, Fetal Death pathology, Growth Disorders diagnostic imaging, Growth Disorders genetics, Humans, Osteoporosis diagnostic imaging, Pregnancy, Radiography, Risk Factors, Ultrasonography, Prenatal, Bone Diseases, Developmental therapy, Growth Disorders therapy
Published
1995

12. [Diagnosis and treatment of fetal congenital adrenal cortex hyperplasia].

Author

Gustavson KH, Larsson A, Nillius SJ, Gustafsson J, Tuvemo T, Ritzén M, Haglund-Stengler B, and Luthman H

Subjects
Adrenal Hyperplasia, Congenital drug therapy, Adrenal Hyperplasia, Congenital genetics, Adult, Dexamethasone administration & dosage, Female, Fetal Diseases diagnosis, Fetal Diseases drug therapy, Humans, Infant, Newborn, Male, Prednisolone administration & dosage, Pregnancy, Adrenal Hyperplasia, Congenital diagnosis, Prenatal Diagnosis
Published
1986

14. [Autoimmune polyendocrinopathies in children].

Author

Gustafsson J and Tuvemo T

Subjects
Adolescent, Adult, Age Factors, Child, Endocrine System Diseases classification, Endocrine System Diseases diagnosis, Female, Humans, Male, Autoimmune Diseases, Endocrine System Diseases immunology
Published
1986

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