Search PubMed⌕ Search

Biomedical subjects

I Kaitila

Publications and source records attributed to I Kaitila.

At least 91 records · Page 5Linked to original sources
PubMed1988

Chronic osteomyelitislike disease with negative bacterial cultures.

During a seven-year period we observed 14 children who had chronic osteomyelitislike disease. The bacterial cultures from the bone lesions were negative. In eight patients the findings were compatible with chronic recurrent multifocal osteomyelitis (CRMO), in four the findings were compatible with chronic sclerosing osteomyelitis of Garré, and two had osteomyelitis of the clavicle. In patients with CRMO, lymphocyte subpopulations, the responses to mitogens, and the chemotactic and chemokinetic responses showed no consistent abnormalities. After a mean follow-up of 4.5 years (range, one to ten years), all four patients with osteomyelitis of Garré were symptomatic, and two had complications. Only two of the eight patients with CRMO had active disease. The course had been complicated by growth disturbances in one patient and by thoracic outlet syndrome in another. Wegener's granulomatosis later developed in a patient with CRMO.

Adolescent↗
PubMed1987

Pallister-Killian syndrome: cytogenetic and molecular studies.

Pallister-Killian syndrome is a dysmorphic syndrome characterized by a tissue-limited mosaicism: a majority of fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. In this study, the interpretation of the extra chromosome as composed of two short arms of chromosome 12 is confirmed, using molecular methods. Furthermore, restriction fragment length polymorphisms indicate that the two arms are identical, which is compatible with the hypothesis of an isochromosome 12p. A new feature which may be important in understanding the mechanism of origin of the abnormality is described: the proportion of abnormal mitoses falls dramatically during long-term culture of fibroblasts.

Aneuploidy↗
PubMed1987

Dental findings in osteogenesis imperfecta: I. Occurrence and expression of type I dentinogenesis imperfecta.

Sixty-eight patients with osteogenesis imperfecta (OI) classified according to Sillence were evaluated for dentinogenesis imperfecta (DI). Orthopantomograms of 51 of the 68 were examined. Type I DI was recognized in 22 patients from 16 families. DI was observed in 4/45 patients with type I OI, in one of two patients with type III, and in 13/16 patients with type IV OI. Four of the five patients with an unidentified type of OI had DI. The expression of type I DI was variable. Discoloration and pulpal obliteration were the major manifestations. Teeth from 14 patients from 12 families were studied histologically. Eight of the 14 patients were from six families who had clinical and/or radiographic evidence of DI. Irregularity of the dentin matrix and tubular pattern in the circumpulpal dentin and normal mantle dentin were observed. Interfamilial variability was greater than intrafamilial variability. The expression of DI was mild in one family with type I OI. There was no further relation between the type of OI and the severity of DI.

Dentin↗
PubMed1987

Dental findings in osteogenesis imperfecta: II. Dysplastic and other developmental defects.

Orthopantomograms of 49 patients with osteogenesis imperfecta (OI) classified according to Sillence were examined for dysplastic dentin defects and other developmental abnormalities of the teeth. Thistle-tube-shaped pulps in the permanent teeth were observed in five patients. Four of them had pulp stones in several teeth. Apically extended pulp chambers were present in 3/49 patients, and the structure of the mandible was cystic in 1/49. These defects occurred in patients with type I or unclassifiable OI and were mainly not associated with type I dentinogenesis imperfecta (DI). The prevalence rates of invaginations (10.2%) and hypodontia of permanent teeth (18.4%) exceeded those in the normal population. The frequent developmental disturbances of the teeth in OI may be secondary to the connective tissue defect. The relation of the dysplastic defects other than type I DI to OI remains to be clarified.

Connective Tissue↗
PubMed1986

Tracheobronchomalacia in an adult with metaphyseal chondrodysplasia.

Anaesthetic complications such as obstruction of airways by submucosal cartilage-bone protuberances, immobility of the neck or instability of the atlanto-axial joint have been described earlier in paediatric patients with congenital osteochondral disorders. This report concerns a case in which tracheal collapse due to tracheobronchial malacia in an adult patient with metaphyseal chondrodysplasia evidently caused severe ventilatory difficulties in the induction of anaesthesia. The management of the patient on three subsequent occasions is described. During the first operation, support of the upper respiratory tract was performed. For this procedure, awake tracheal intubation with local anaesthesia applied to the larynx, vocal cords and trachea was used. After surgical correction of the bronchus of the right upper lobe and the stem bronchus, subsequent anaesthesias for surgical treatment of scoliosis could be conducted safely. The possibility of co-existing tracheobronchial malacia in patients with osteochondrodysplasias should be considered and tracheal intubation under local anaesthesia is recommended.

Adult↗
PubMed1986

Cleft palate in diastrophic dysplasia. Morphology, results of treatment and complications.

Forty-one of 95 Finnish patients (43%) with diastrophic dysplasia had open cleft palate (CP). Submucous CP or its microforms were observed in an additional 30 patients (32%). Even though most of the patients have micrognathia, the high frequency of submucous clefts speaks against the role of the interposed tongue in the pathogenesis of CP in the Pierre Robin sequence. There was no hypernasality of speech in 27 of the 30 patients with submucous CP or its microforms, and the spontaneous speech of the other three was good. This is in contrast with observations in isolated submucous CP in general. No operative treatment was indicated in any case. Results after treatment of open CP and speech problems were in good agreement with results from the patients with isolated CP from the same period of time. As newborns 11 of the patients (12%) had severe respiratory difficulties caused by glossoptosis, and a Douglas operation was performed in three patients. Spinal compression due to abnormalities in cervical vertebrae and to dorsiflexion necessitated by intubation and velopharyngeal surgery may be a dangerous operative complication of patients with diastrophic dysplasia.

Adolescent↗
PubMed1985

Expression of X-linked hypohidrotic ectodermal dysplasia in six males and in their mothers.

Six male patients with confirmed X-linked hypohidrotic ectodermal dysplasia and their mothers were studied to determine the variation of expressivity in patients and heterozygotes, major problems of the patients, and to find a clue to pathogenesis. The number of teeth, conic in shape, in patients varied from none to 14. In addition to hypohidrosis and hypotrichosis, dry skin, reduced salivation, hoarseness and hypoplasia of the nipples were common signs. Five patients had frequent respiratory infections. The mothers lacked more than four permanent teeth, one mother had hypodontia in the deciduous dentition. The sweat pore counts were low in patients, and lower than normal in the mothers. All patients carried beta-hemolytic streptococci, four of them group A either in nose or pharynx, without symptoms. Immunoglobulin values, including IgA were normal in serum and saliva. Unexpectedly, serum parathyroid hormone concentrations both in patients and mothers were low. The major problem of the families was the risk of hyperpyrexia due to hypohidrosis, but the patients' concern was mostly because of their facial appearance.

Body Temperature Regulation↗
PubMed1985

Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance.

Two sisters, products of a consanguineous marriage (with a total of 12 children) showed muscle weakness at ages 7 and 6 yrs, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages of 12 and 11 yrs, respectively. They had mild facial weakness and pseudohypertrophy of the calves, but neither cardiomyopathy nor mental retardation. Serum CK activities exceeded upper normal limit by 70 to 85-fold. Muscle biopsies were compatible with muscular dystrophy. Both girls had a normal karyotype. The healthy mother had mild CK elevations in two out of three occasions, but the muscle biopsy was normal. Three out of the six unaffected sibs had mild CK elevations. The findings support the concept of severe progressive muscular dystrophy with autosomal recessive inheritance. The condition is clinically indistinguishable from Duchenne muscular dystrophy.

Creatine Kinase↗
PubMed1985

The ophthalmological findings in autosomal recessive severe juvenile arteriosclerosis.

Severe juvenile arteriosclerosis (JAS) is a rare, fatal disease with probably autosomal recessive inheritance. Precocious arterial murmurs and calcification of aorta and major arteries are associated with anaemia, growth retardation, prolonged systolic hypertension, gradual renal failure, gastrointestinal perforations, and early death. The ophthalmological findings in 5 boys and 1 girl between 7 and 17 years of age were retinal vascular tortuosity of main vessels, pre-capillary arterioles and post-capillary venules, sausage-like bulging of central main arterioles and microaneurysms of arterioles of the central fundus. Narrowing and local constriction was a typical feature of peripheral arterioles. The combination of findings documented by fluorescein angiography in 4 children was typical for severe juvenile arteriosclerosis.

Adolescent↗
PubMed1983

Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome.

Cultured fibroblasts of 13 patients with the Menkes syndrome and two with a new subtype (type IX) of the Ehlers-Danlos syndrome (E-D IX patients) showed many very similar abnormalities in their copper and collagen metabolism. Both cell types had markedly increased copper concentrations and 64Cu incorporation, and this cation accumulated in metallothionein or a metallothionein-like protein, as previously established for Menkes cells. Histochemical staining indicated that copper was distributed diffusely throughout the cytoplasm in both cell types, this location being consistent with the accumulation in metallothionein. Both fibroblast types also had markedly low lysyl oxidase activity and distinctly increased extractability of newly synthesized collagen, whereas no abnormalities were present in cell viability, duplication rate, prolyl 4-hydroxylase activity, or collagen synthesis rate. A high negative correlation (P less than 0.001) was found in the pooled group of Menkes and E-D IX cells between cellular copper concentration (r = 0.804) or 64Cu incorporation (r = 0.863) and the logarithm of lysyl oxidase activity. There was also a high positive correlation (P less than 0.001) between cellular copper concentration and incorporation (r = 0.869). One of the two E-D IX patients was also shown to have similar changes in lysyl oxidase activity and collagen extractability in the skin biopsy specimen, suggesting that the abnormalities observed in cultured cells are similar to those present in vivo. The only distinct abnormality found in the cells of the parents of the E-D IX patients was an increased 64Cu incorporation in those of the mother, this finding being consistent with X-linked inheritance of the disorder.

Brain Diseases, Metabolic↗
PubMed1983

Early prenatal detection of diastrophic dysplasia.

Diastrophic dysplasia, an autosomal recessive disorder, results in severe short-limbed dwarfism, progressive spinal and joint problems, and secondary psychosocial disability. The results of treatments are unsatisfactory. Four pregnant mothers at risk for an affected fetus were studied with an ultrasound scanner at 16 and 19 weeks of gestation. Each mother had a previous child with diastrophic dysplasia. The biparietal distance and the length of the long bones of the extremities were normal in three fetuses, whereas in one fetus there was a 30 per cent shortening of all long bones. The biparietal distance corresponded with the gestational age in all fetuses. In one fetus, diastrophic dysplasia was confirmed by fetoscopy and fetal radiograph at 19 weeks of gestation after the parents had decided to terminate the pregnancy. The skeletal radiograph and autopsy findings of the fetus verified the diagnosis. All other mothers were followed with repeated ultrasound examinations, and they delivered healthy babies. The retrospective follow-up of the four previous pregnancies and of the present one with affected fetuses disclosed that two mothers had had vaginal bleeding, two lymphedema, one abdominal pains, and one mother had had polyhydramnios. These complications were, however, mild and transient, and they could not be regarded as specific for pregnancies with affected fetuses.

Abnormalities, Multiple↗
PubMed1983

Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor.

A family with dominantly inherited aniridia in three generations is presented. All three patients had an apparently balanced chromosome translocation t(4;11)(q22;p13). The patients were otherwise clinically normal and without signs of Wilms' tumor; their erythrocyte catalase activities were within the normal range. We suggest that in this family aniridia is caused either by a submicroscopic deletion at the translocation breakpoint 11p13 or by a position effect on the same chromosome segment. Furthermore, the loci for aniridia and Wilms' tumor susceptibility are separate. It follows that the WAGR complex is caused by a mutation of more than one gene located at 11p13. The theoretical implications of a presumably defective allele causing a mendelian dominant phenotype are discussed.

Chromosome Banding↗
PubMed1982

Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

Biochemical abnormalities were studied in two brothers with bladder divericulas, inguinal hernias, slight skin laxity, and hyperelasticity and skeletal abnormalities including occipital exostoses. Lysyl oxidase activity was low in the medium of cultured skin fibroblasts, this abnormality being accompanied by reduced conversion of the newly synthesized collagen into the soluble form. Copper concentrations were markedly elevated in the cultured skin fibroblasts, but decreased in the serum and hair. Serum cerulophasmin levels were also low. The reduced lysyl oxidase activity is suggested to be responsible for ther clinical manifestations, but the deficiency in this copper-dependent enzyme may be secondary to the abnormalities in the metabolism of the cation. Nevertheless, a mutation directly affecting both lysyl oxidase and an intracellular copper transport protein cannot be excluded. The disease is tentatively classified as one subtype of the Ehlers-Danlos syndrome.

Adult↗