Biomedical subjects

P Marttila

Publications and source records attributed to P Marttila.

4 recordsLinked to original sources

PubMed2001

Prolyl 4-hydroxylase isoenzymes I and II have different expression patterns in several human tissues.

Prolyl 4-hydroxylase plays a central role in the synthesis of all collagens. We have previously reported that the recently identified Type II isoenzyme is its main form in chondrocytes and possibly in capillary endothelial cells, while Type I is the main form in many other cell types. We report here that the Type II isoenzyme is clearly the main form in capillary endothelial cells and also in cultured umbilical vein endothelial cells, whereas no Type I isoenzyme could be detected in these cells by immunostaining or Western blotting. The Type II isoenzyme was also the main form in cells of the developing glomeruli in the fetal kidney and tubular structures of collecting duct caliber in both fetal and adult kidney, in occasional sinusoidal structures and epithelia of the bile ducts in the liver, and in some cells of the decidual membrane that probably represented invasive cytotrophoblasts in the placenta. Osteoblasts in a fetal calvaria, i.e., a bone developing by intramembranous ossification, stained strongly for both types of isoenzyme. The Type I isoenzyme was the main form in undifferentiated interstitial mesenchymal cells of the developing kidney, for example, and in fibroblasts and fibroblastic cells in many tissues. Skeletal myocytes and smooth muscle cells appeared to have the Type I isoenzyme as their only prolyl 4-hydroxylase form. Hepatocytes expressed small amounts of the Type I enzyme and very little if any Type II, the Type I expression being increased in malignant hepatocytes and cultured hepatoblastoma cells. The data suggest that the Type I isoenzyme is expressed especially by cells of mesenchymal origin and in developing and malignant tissues, whereas the Type II isoenzyme is expressed, in addition to chondrocytes and osteoblasts, by more differentiated cells, such as endothelial cells and cells of epithelial structures. (J Histochem Cytochem 49:1143-1153, 2001)

Animals↗

PubMed2001

Phenotypes Associated with SHOX Deficiency.

Leri-Weill dyschondrosteosis (LWD) (MIM 127300) is a dominantly inherited skeletal dysplasia characterized phenotypically by Madelung wrist deformity, mesomelia, and short stature. LWD can now be defined genetically by haploinsufficiency of the SHOX (short stature homeobox-containing) gene. We have studied 21 LWD families (43 affected LWD subjects, including 32 females and 11 males, ages 3-56 yr) with confirmed SHOX abnormalities. We investigated the relationship between SHOX mutations, height deficit, and Madelung deformity to determine the contribution of SHOX haploinsufficiency to the LWD and Turner syndrome (TS) phenotypes. Also, we examined the effects of age, gender, and female puberty (estrogen) on the LWD phenotype. SHOX deletions were present in affected individuals from 17 families (81%), and point mutations were detected in 4 families (19%). In the LWD subjects, height deficits ranged from -4.6 to +0.6 SD (mean +/- SD = -2.2 +/- 1.0). There were no statistically significant effects of age, gender, pubertal status, or parental origin of SHOX mutations on height z-score. The height deficit in LWD is approximately two thirds that of TS. Madelung deformity was present in 74% of LWD children and adults and was more frequent and severe in females than males. The prevalence of the Madelung deformity was higher in the LWD vs. a TS population. The prevalence of increased carrying angle, high arched palate, and scoliosis was similar in the two populations. In conclusion, SHOX deletions or mutations accounted for all of our LWD cases. SHOX haploinsufficiency accounts for most, but not all, of the TS height deficit. The LWD phenotype shows some gender- and age-related differences.

Adolescent↗

PubMed1997

Effect of 19-norandrostenololylaurate on semen characteristics of colts.

The long-term effects of the anabolic steroid 19-norandrostenololylaurate on semen characteristics of Finnhorse colts were studied in 3 experiments. Semen was collected initially at 24 months of age and then twice a year. In experiment I, 500 mg or 100 mg of steroid per animal was given every 3rd week from 12 or 16 months to 24 months of age. In colts treated with 500 mg of anabolic steroid every 3rd week, azoospermia was observed in 3 out of 5 colts in the first semen collections, immediately after the end of treatment. The other 2 colts had low sperm numbers and a high percentage of proximal droplets in relation to control animals. The 100 mg group was less affected by steroid treatment than the 500 mg group. The seminal changes were observed to be reversible. All of the colts had spermatozoa in their ejaculates 4 months after the end of treatment. Two years after cessation of treatment, sperm numbers in treated animals exceeded those in the control group. In experiment II, colts were treated from 7 months to 12 months of age with a dose of 1 mg/kg every 3rd week or 0.3 mg/kg every week. The first semen collections took place 12 months after the last treatment. The animals treated with 0.3 mg/kg every week were less affected than those treated with 1 mg/kg every 3rd week. In experiment III, animals were treated from 3 months to 8 months of age, and the interval from the last treatment to the first semen collection was 16 months. There were no significant differences between the groups in any of the semen parameters examined. In the last semen collection, the control animals had numerically higher spermatozoal concentration and progressive motility and less dead sperm than the treated animals. It was concluded that the adverse effects of steroid treatment on semen characteristics were reversible, at least in the groups treated at age 7-25 months.

Aging↗

PubMed1975

Headache as a symptom of endometriosis externa.

Prior to an abdominal operation, 125 patients were asked if they regularly had headache during the menstrual period together with or without pain in the lower pelvic region. Pelvic pain patients with endometriosis externa reported headache significantly more often than those without endometriosis. Headache proved to be almost as common a symptom as lower pelvic pain in patients with endometriosis.

Adult↗