Skip header and navigation

Refine By

23 records – page 1 of 3.

Aetiology of congenital hypothyroidism in Finland.

https://arctichealth.org/en/permalink/ahliterature231420
Source
Acta Paediatr Scand. 1989 Jan;78(1):67-73
Publication Type
Article
Date
Jan-1989
Author
M. Virtanen
J. Mäenpää
J. Pikkarainen
L. Pitkänen
J. Perheentupa
Author Affiliation
Children's Hospital, Helsinki, Finland.
Source
Acta Paediatr Scand. 1989 Jan;78(1):67-73
Date
Jan-1989
Language
English
Publication Type
Article
Keywords
Congenital Hypothyroidism
False Positive Reactions
Fetal Blood - analysis
Finland
Humans
Hypothyroidism - epidemiology - etiology
Infant, Newborn
Risk factors
Seasons
Thyrotropin - blood
Abstract
In Finland a nationwide screening programme for congenital hypothyroidism (CHT) has operated since 1980 with complete coverage. Among the total of 307,000 newborns screened, the incidence per 100,000 was 24.6 for thyroid dysgenesis and 4.0 for dyshormonogenesis. We conclude that, when screening is based on cord serum TSH, the false-positive results are caused mainly by difficult delivery. The most important factors associated with dyshormonogenesis were CHT in the family, origin from a geographic risk area, and origin of both mother and father from the same community. These reflect the autosomal recessive inheritance. The risk factors for dysgenesis were female gender, CHT in the family, birth in a geographic risk area, and birth during a risk period of the year.
PubMed ID
2919526 View in PubMed
Less detail

Aspartylglycosaminuria: a gargoyle-like syndrome with autosomal recessive inheritance.

https://arctichealth.org/en/permalink/ahliterature254067
Source
Birth Defects Orig Artic Ser. 1974;10(4):193-200
Publication Type
Article
Date
1974
Author
S. Autio
J. Palo
J. Perheentupa
Source
Birth Defects Orig Artic Ser. 1974;10(4):193-200
Date
1974
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aminoglycosides - urine
Aspartic Acid - analogs & derivatives - urine
Child
Finland
Humans
Mucopolysaccharidoses - genetics
Pedigree
Syndrome
Abstract
Aspartylglycosaminuria is an autosomal recessive disorder of glycoprotein catabolism, characterized by presence of aspartyglycosamine in the urine, progressive mental retardation, coarse face, impaired speech and motor functions, and signs of involvement of connective tissue and skeleton. In infancy, clinical symptoms are mild or absent. Vacuolized lymphocytes are often found in the blood and bone marrow. The disease appears unusually common in Finland.
PubMed ID
4220085 View in PubMed
Less detail

Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I.

https://arctichealth.org/en/permalink/ahliterature48227
Source
J Clin Endocrinol Metab. 1997 Jan;82(1):147-50
Publication Type
Article
Date
Jan-1997
Author
E S Husebye
G. Gebre-Medhin
T. Tuomi
J. Perheentupa
M. Landin-Olsson
J. Gustafsson
F. Rorsman
O. Kämpe
Author Affiliation
Department of Internal Medicine, University Hospital, Uppsala University, Sweden. eystein.husebye@medicin.uu.se
Source
J Clin Endocrinol Metab. 1997 Jan;82(1):147-50
Date
Jan-1997
Language
English
Publication Type
Article
Keywords
Adult
Animals
Aromatic-L-Amino-Acid Decarboxylases - genetics - immunology
Autoantibodies - blood
Diabetes Mellitus, Type 1 - immunology
Electrophoresis, Polyacrylamide Gel
Female
Finland
Humans
Islets of Langerhans - enzymology
Male
Polyendocrinopathies, Autoimmune - enzymology - immunology
Protein Biosynthesis
Rats
Research Support, Non-U.S. Gov't
Sweden
Transcription, Genetic
Abstract
Patients with autoimmune polyendocrine syndrome type I (APS I) have autoantibodies against the enzyme aromatic L-amino acid decarboxylase (AADC) of pancreatic beta-cells. The aim of the present study was to investigate the presence of anti-AADC antibodies in a large cohort of patients with APS I, and in patients with isolated insulin-dependent diabetes mellitus (IDDM). We found autoantibodies against AADC in 35 of 69 patients (51%) with APS I but in none of 138 patients with isolated IDDM or 91 healthy controls. Among the patients with APS I, anti-AADC antibodies were more often found in those with hepatitis (11/12, 92%), than in those without hepatitis (24/57, 42%) (P = 0.003). Similarly, of 15 patients with vitiligo, 12 (80%) had anti-AADC antibodies, compared with 23/54 (43%) without vitiligo (P = 0.021). Of the 9 APS I patients with IDDM, 5 had antibodies against both AADC and glutamate decarboxylase, 2 against AADC only, and 2 against glutamate decarboxylase only. Interestingly, AADC is present in relatively large amounts in the liver, where its function is unknown. Thus, an autoimmune reactivity against AADC may be involved in the pathogenesis of autoimmune chronic active hepatitis and vitiligo in APS I patients, whereas the role of AADC in the development of IDDM in these patients remains to be determined.
PubMed ID
8989249 View in PubMed
Less detail

[Child health center as a promoter of children's health].

https://arctichealth.org/en/permalink/ahliterature193358
Source
Duodecim. 1998;114(11):1065, 1067, 1069
Publication Type
Article
Date
1998

Craniofacial and dental characteristics of cartilage-hair hypoplasia.

https://arctichealth.org/en/permalink/ahliterature249198
Source
Cleft Palate J. 1978 Jan;15(1):49-55
Publication Type
Article
Date
Jan-1978
Author
O. Rönning
S. Myllarniemi
J. Perheentupa
Source
Cleft Palate J. 1978 Jan;15(1):49-55
Date
Jan-1978
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Cephalometry
Child
Child, Preschool
Dentition - abnormalities
Diagnosis, Differential
Dwarfism - genetics
Facial Bones - abnormalities - radiography
Female
Finland
Hair - abnormalities
Humans
Infant
Infant, Newborn
Male
Osteochondrodysplasias - genetics - radiography
Skull - abnormalities - radiography
Syndrome
Abstract
The cranio-facial and dental features were studied by means of roentgencephalometry and anthropometry in 24 patients with cartilage-hair-hypoplasia. Data pertaining to the cranial base were considered indicative of subnormal growth in some of the cranial synchondroses. The width of the neurocranium was slightly below the values of the controls, whereas neurocranial length and circumference appeared unaffected. Facial height was larger than in the controls and facial index values were high. The chin was receding, but the other values of facial depth were relatively large. No abnormalities were observed in tooth morphology, dental age, or dental occlusion. The neurocranial morphology in CHH and achondroplasia show some similarities; the skull base, however, is clearly less bent in the CHH-syndrome. This, together with the virtually normal face and dentition in CHH-patients, is, perhaps, of differential diagnostic value.
PubMed ID
272241 View in PubMed
Less detail

23 records – page 1 of 3.