Biomedical subjects
Publications and source records attributed to L Koulischer.
Electron microscopy of spermatozoa is required in cases of important and persistent disorders of motility. Within the frame of fertility investigations, it can also prove useful in cases of in vitro fertilisation failures where structural defects of acrosome may be detected. Lastly subclinical seminal infections are diagnosed in more than 20% and account for a substantial number of acquired head anomalies and necrospermia.
The result of the in vitro human sperm penetration test into hamster eggs must not be considered as absolute. It is a step in the management of male infertility and must be interpreted in regard of the results of other tests. In our experience, if the test is negative, the probability to observe a pregnancy in the patient's partner is about one in seven and half years; if the test is positive, it is about one in two and half years. On the other hand, if a pregnancy occurs, with a positive or a negative test, it will start 5 to 7 months later.
Five hundred children and adolescents affected by mild mental retardation were studied together with their families with regard to a number of psycho-social, medical and genetic factors. Statistical studies were performed with these data and showed that this apparently homogeneous population could in fact be divided into three subgroups. The first and by far the largest group (66%) was constituted by a clinically normal population but in whom adverse social and cultural factors were dominant. In the second subgroup (20%) the mental retardation was much more pronounced (IQ of 50----65) and the socio-cultural and socio-economic levels were particularly low. Finally, organic causes (prematurity, dystocic, labour, etc.) seemed to constitute the principal factor explaining the retardation observed in the third subgroup (14%). The second subgroup comprising of 50 children and their families, were observed more closely; in this group 20 cases of known genetic diseases were found.
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This paper outlines the problem of major malformations of the urinary tract, their frequency and their etiology. It is based on data analysis of 900 neonatal autopsies performed in our center from 1978 to 1987. These major malformations are often lethal and they can essentially be separated into disorders of the kidney and malformations of the lower urinary tract. Single-gene disorders are often seen in the former whereas the second group is more likely to be multifactorially controlled. We do insist on the importance of a strict collaboration between pathologists and geneticists.
Between 1974 and 1987, 232 translocation carriers have been detected in our Center; they belong to 144 different families. Indications for chromosome analysis were the following: familial studies in relation with a patient suggesting a chromosome anomaly (25.4%); mental retardation with or without malformations (24.6%); 2 or more spontaneous abortions (17.2%); infertility problems, mainly male (16.4%); genetic counseling for a non-chromosomal disease (9.5%); prenatal diagnosis in risk pregnancies (6.9%). The chromosome anomalies detected were the following; balanced Robertsonian fusions (114 cases = 49.1%); balanced translocations (74 cases = 31.9%); unbalanced translocations, Robertsonian fusions included (44 cases = 19%). Two groups may be distinguished: the first one confirms data already known, such as high frequency of balanced translocations in couples with multiple abortions, or in infertile males. The second group on the contrary shows more unusual observations: 4 cases of standard trisomy 21 born to young parents carriers of a balanced translocation not involving chromosome 21; 5 cases of trisomy 13 with 46 chromosomes and a Robertsonian fusion, born to parents carriers of a t(13q; Dq) (twice the mother and thrice the father); 14 cases of apparently balanced translocations, however with an abnormal phenotype; and finally 22 cases of balanced translocations incidentally detected during the course of investigations in patients with a genetic problem generally not associated with a chromosome defect.
The prenatal diagnosis of dup(3p) was made in a female conceptus, the father being a known carrier of a balanced translocation t(3;10)(p21;q26). Interruption of pregnancy at 19 weeks showed a fetus with a holoprosencephaly field defect. Two other cases of dup(3p) have been observed in the same family. The malformations were different in each of the 3 patients, suggesting a considerable degree of variability of dup(3p).
Data analysis of 600 neonatal necropsies performed in our Center from 1978 to 1984, has shown that in 200 cases one or more lethal malformations were observed: the most frequent concerned the central nervous system (33 cases), the urinary tract system (28 cases) and the cardiovascular system (26 cases). A genetic determinism was considered in 127 cases (63,5%). Usually a genetic counselling follows neonatal death in our Center: necropsy findings are then most useful: the authors advocate the interest of a close collaboration between pathologists and geneticists.
The usual indications of amniocentesis for prenatal diagnosis are briefly reviewed. Some situations which are note included in these usual indications are discussed: mothers of 34 years, young aunts of a trisomic child, patients with a previous aborted conceptus diagnosed as trisomic by histological examination of the placenta or tissue culture. It is anticipated that, if accepted, these "unusual" criteria would not overload a given laboratory with an excess of analysis, and would certainly relief anxiety of motivated couples.
In our serie of 450 neonatal necropsies, 26 cases presenting with urinary tract anomalies have been observed (5,7% of the total and 15,5% in those with malformations). From an etiological point of view, two groups could be distinguished: one (17 cases) with severe oligoamnios sequence and the second (9 cases) with hereditary malformations. In this second heterogeneous group thourough pathological examination seems to be the essential for diagnosis and efficient genetic counselling.
The genetic heterogeneity and the difficulty of accurate genetic counseling in some cases of osteogenesis imperfecta (OI) is shown by the present report. All signs characteristic of OI type II were observed in a newborn infant who died immediately after delivery: curved and deformed limbs, multiple bone fractures, enlarged and soft skull. An autosomal recessive mode is usually admitted for OI type II. However, several cases of OI tarda levis (autosomal dominant) are noticed in the maternal family. The possibility of a relationship between these two types of osteogenesis imperfecta in the same family, which might be important for genetic counselling, is discussed.
18 cases of trisomies 13, 18, or 21 were diagnosed either by examining the caryotype or on clinical criteria. When the placenta was examined in 60% of cases there was a marked retardation of villous maturation with frequent persistence of embryonic forms of villi. The authors suggest that the failure of the villi to mature was often a reflection of pathology in the oocyte which started to show itself at the beginning of the pregnancy.
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Meiotic chromosomes of adult mice testes cultured in vitro have been studied. All meiotic stages are present and normal until the 8th day; suitable figures for chromosome studies may be obtained with routine cytogenetic methods. During the 9th and 10th day in vitro, the number of cells in meiotic progress falls abruptly. By the 14th day, only a few pachytene stages are still observed. This breakdown of meiosis, linked with the disappearance of the germ cell line, is not due to chromosome anomalies that could have arisen in the new environment. Labeling with tritiated thymidine suggests that spermatogonia do not enter meiotic division in vitro. Chromosomes observed with this technique belong to cells already involved in meiotic processes at time of the initiation of the culture.
Congenital anomalies or malformations have now become the principal cause of neonatal deaths, as confirmed by the present study of 350 consecutive autopsies studied from 1977 to 1981. The overall incidence of congenital malformations for the whole period considered was of 36.8%. However, during this short four-year lapse of time, a steady increase from 26.8% in 1977 to 48.1% in 1981 could be noticed. This increase is concomitant to the decrease of the "classical" causes of neonatal deaths, namely prematurity sequellae and intrapartal death. Indeed, many different entities have been identified; it seems interesting to point out, however, the relatively great number of autosomal recessive diseases found in the present series. For a full genetic profit, neonatal autopsy should be complete and systematically followed by genetic counseling.
Meiotic chromosome studies in male infertility are controversial: some authors find them useful, others do not. Indeed, interpretation of data already published is still difficult, for some main reasons discussed in the text: the small volume of testicular tissue available for observation, the lack of uniformity in the selection of patients from series to series, the presentation of the results. Nevertheless, critical analysis of the literature leads to the conclusion that in 10% of patients whom underwent testicular biopsy, meiotic chromosome anomalies can easily explain their infertility. Our personal series of 450 cases confirms this order of magnitude. Therefore, we think that meiotic chromosome analysis is certainly useful in the evaluation of male infertility, both for diagnosis and prognosis.