PubMed Health⌕ Search

Biomedical subjects

J M Cobben

Publications and source records attributed to J M Cobben.

48 records · Page 3Linked to original sources
PubMed1993

Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.

The recent discovery of a major SMA-locus in the chromosomal region 5q makes it possible to carry out prenatal DNA studies in families in which a child with SMA type I has been born. Since direct mutation analysis is not yet possible, the reliability of prenatal prediction of SMA type I usually depends on the certainty of the clinical diagnosis in the index patient. Sixteen requests were received for DNA studies in couples who had had a previous child with SMA type I. After re-evaluation, the performance of prenatal diagnosis was rejected in four cases. Among the other twelve families prenatal DNA analysis of chorion villus biopsies has been carried out in three families. In all three cases the fetus had inherited the high-risk haplotypes from both parents, and the parents chose to terminate the pregnancy. An illustration of the prenatal DNA studies in one family is given. The importance of confirmation of the diagnosis SMA type I before performing DNA studies is emphasised.

Biopsy↗
PubMed1992

A boy with Poland anomaly and facio-auriculo-vertebral dysplasia.

Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications are discussed.

Abnormalities, Multiple↗
PubMed1990

Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease.

Congenital hepatic fibrosis was found in four families with autosomal-dominant polycystic kidney disease. Congenital hepatic fibrosis is commonly though to be characteristic for autosomal-recessive polycystic kidney disease, but the reported families, show that it can also complicate autosomal-dominant polycystic kidney disease. In three families close linkage between the mutation causing the disease and DNA markers on chromosome 16 was demonstrated. The clinical course of the congenital hepatic fibrosis differed considerably; in one family the children with congenital hepatic fibrosis died soon after birth, in the three other families an approximately 20 years follow-up showed no detectable progression of the liver disease.

Adult↗
PubMed1990

[CRP versus BSE in pediatrics. How good is a diagnostic test?].

In a prospective study CRP and BSE values were compared in 130 children who came to the first aid of our hospital with symptoms suspicious for an infection either viral or bacterial. Since the predictive value of both parameters dependents on the prevalence of diseases we discussed the likelihood ratio and the receiver operating characteristic as better parameters in the evaluation of a test i.e. BSE and CRP. It finally became clear that such characteristics are useful in clinical practice and therefore deserve more attention.

Adolescent↗
PubMed1989

Poland anomaly in mother and daughter.

We report on Poland anomaly in a mother and her daughter. Further family history was negative for abnormalities of the hands or the pectoralis major muscle. A review of published cases of familial Poland anomaly is presented. Implications concerning the possible etiology of familial cases of Poland anomaly are given.

Adult↗
PubMed1986

[Echography of the normal kidney in infants].

In 33 infants from 0 to 11 months old, apparently without urinary tract disease, the kidneys were examined sonographically. Renal length was correlated with age and bodyweight. The renal echopattern was studied: Normal kidneys in newborn and young infants have several distinct sonographic features: the renal cortex is more echogenic, the medullary pyramids are prominent and relatively anechoic, the central sinus echo is reduced. This pattern occurs until the age of 3 months and changes to the adult pattern at the age of 5 months.

Aging↗
PubMed1986

[The enlarged kidney in infancy--echographic findings].

Experience in the use of ultrasound to evaluate renal masses during infancy is reported. Ultrasonography revealed hydronefrosis (20 cases), multicystic kidney (5 cases), polycystic kidney disease (3 cases) and neoplasm (4 cases). The differential diagnosis between hydronefrosis and multicystic kidney can be difficult. Hydronefrosis is diagnosed by the demonstration of communication between adjacent fluid-filled spaces.

Diagnosis, Differential↗
PubMedDate not supplied

First trimester diagnosis of split hand/foot by transvaginal ultrasound.

OBJECTIVE/METHOD: First trimester high-frequency transvaginal ultrasonographic examination was performed in a 26-year-old gravida 2, para 1, diagnosed with tetramelic split hands and feet. The couple was informed about the probable 50% recurrence risk of this anomaly. RESULTS: At 12 weeks' gestation, high-frequency transvaginal ultrasound examination revealed a fetus with biometry consistent with gestational age. Both hands appeared to have a single digit at the ulnar side. On the site of the metacarpal bones, only three bones could be visualized. Both feet showed two digits, with a typical 'split-foot' appearance. Nuchal translucency thickness measured 1.0 mm. No additional abnormalities could be found. The child was born in good condition with the described split hand/foot malformation (SHFM). CONCLUSION: This case report demonstrates prenatal sonographic diagnosis of SHFM in a first trimester fetus. In first trimester there can be several technical advantages and it shortens the period of uncertainty of the parents. Secondly it provides the option of early surgical termination of the pregnancy instead of induction of labour.

Adult↗