Biomedical subjects

Jan Maarten Cobben

Publications and source records attributed to Jan Maarten Cobben.

3 recordsLinked to original sources

PubMed2006

Normal values for morphological abnormalities in school children.

Clinical morphology has proven to be a strong tool in the delineation of many syndromes and a helpful instrument in molecular studies. Numerous studies have been performed investigating the prevalence of minor anomalies in various disorders; all concluding that minor anomalies can well be utilized as indicators of altered embryonic differentiation. However, for adequate evaluation, normal values for phenotypic abnormalities are essential. So far, only few studies on the frequency of phenotypic abnormalities in the normal population have been done having one thing in common: all were performed in newborn infants. We studied morphological characteristics in a group of 1,007 school children, representative for the Dutch population, through a body surface examination using detailed definitions for all morphological findings. The region of study and distribution of children over various school types was chosen in such a way that it represented the general Dutch population. The median age of the studied children was 11 years (range 8-14 years), sex ratio (M:F) was 0.93. Nine hundred twenty-three children were of Caucasian descent, 84 others of mixed ethnic backgrounds. The reliability of the examinations was tested by independent scoring of 111 children by two observers, showing a kappa score of 0.85. Normal values for the morphological findings are presented together with their age-adjusted classification. These normal values provide a valuable source for validation of classifications of phenotypic abnormalities, especially those that are depending on frequency, that is, minor anomalies and common variants. Furthermore, they will allow a proper evaluation of patterns of phenotypic abnormalities found in patient groups with specific disorders.

Adolescent↗

PubMed2004

Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?

Dieker and Opitz in 1969 described the simultaneous occurrence of limb deficiencies (LDs) and renal anomalies (RAs) in three patients. Curran and Curran introduced in 1972 the term "acrorenal syndrome." Since then, the term "acrorenal syndrome" is used occasionally, but a well-circumscribed definition has never been established. On the other hand, the concept of an acrorenal polytopic developmental field defect was postulated by Opitz and others to explain the association between RAs and LDs. We undertook this study to investigate whether this acrorenal "syndrome" could be identified in a large group of cases with congenital RAs and a limb deficiency. Eleven birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring (i.e., registries of ICBDMS in Finland, France [Paris and Strasbourg], Israel, Italy [IPIMC and Emilia Romagna], Mexico, Northern Netherlands, South America, Spain, and the United States [Atlanta]) provided data on 815 infants who had a LD and at least one other major congenital anomaly. These 815 cases were ascertained among 5,163,958 births. We selected the 197 cases who had both a limb deficiency and a renal or urinary tract anomaly. In about 50% of these cases a diagnosis or a recognized phenotype was reported, with chromosomal aberrations and VACTERL being most frequent. In the group with no diagnosis or recognized phenotype (95 cases), we looked for (a) clustering of specific types of LDs and RAs, and (b) for clustering of associated anomalies, in order to find evidence for and be able to define better the term "acrorenal syndrome." Our data suggest that an association exists between LDs and RAs, possibly explained by the concept of the acrorenal polytopic developmental field defect. However, our dataset does not yield evidence for the existence of one distinct "syndrome," defined as a pattern of causally related multiple anomalies. Therefore, use of the term "acrorenal syndrome" should be avoided.

Abnormalities, Multiple↗

PubMedDate not supplied

Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation.

PURPOSE: The objective of this study was to investigate whether the knowledge of genetics relevant for daily practice among medical students nearing graduation in the Netherlands was sufficient to react appropriately to the change of relevance of genetics in medicine. METHODS: A computer examination validated in a group of clinical geneticists, medical students nearing graduation, and nonmedical students. The examination consisted of 215 genetic questions classified by the designers into three categories of relevance: "essential" knowledge (requirement: > 95% correct answers), "desirable" knowledge (requirement: > 60% correct answers), and "too specialized" knowledge (no requirement). To set an independent standard, the questions were also judged by clinical geneticists and nongenetic health care providers in an Angoff procedure. In total, 291 medical students nearing graduation from seven out of the eight medical schools in the Netherlands participated. RESULTS: As expected, the mean score for "essential" knowledge (71.63%, 95% CI 70.74-72.52) was higher than for "desirable" knowledge (55.99%, 95% CI 55.08-56.90); the mean score for "too specialized" knowledge (44.40%, 95% CI 43.19-45.62) was the lowest. According to passing scores set for "essential" knowledge as defined by the designers, the clinical geneticists, and the nongenetic health care providers, only 0%, 26%, and 3%, respectively, of the participants would have passed. CONCLUSIONS: Medical students nearing graduation lack genetic knowledge that is essential for daily practice. Therefore, changes should be made in the medical curricula.

Analysis of Variance↗