Biomedical subjects
Publications and source records attributed to H Plauchu.
Interest of family study. The first boy deceased after some hours of life. Necropsy. The second boy was clinically normal with severe bilateral vesico-ureteric reflux detected by IVU only. Surgical treatment. This boy is actually in good health.
A report by Bullock and coworkers has emphasized the need for standardization of the CK assay in carrier detection for DMD. A collaborative study, according to a well-specified design and involving two laboratories in Paris and Lyon, indicates that the reliability of this assay can be improved provided that special attention is paid to information about participating subjects, laboratory protocol, and repeated sampling. On a random sample of young women, mean and variance of ln(CK) are 1.66 and 0.015 respectively. Within and between variance components are in a 3:4 ratio, homogeneous between populations. Additional use of a common test serum should insure good reliability of this assay among laboratories.
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The authors report two new cases of primary amenorrhoea due to the presence of a dicentric Y with a chromosome formula of 45,X/46,X,dic(Y). These two patients show how variable the clinical manifestations of these gonosome anomalies can be, since one had a Turner's syndrome and the other is a woman who looks completely normal but only has primary amenorrhoea. A review of the literature has brought to light only 45 cases similar to ours and shows the different clinical aspects of these patients who are 45,X/46,Xdic(Y). Finding that one of our patients had a gonadoblastoma has confirmed the need to carry out bilateral castration when there is a dysgenetic gonad with a Y chromosome, in order to treat or prevent a dysgenetic tumour from arising.
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The Meckel syndrome is inherited as an autosomal recessive monogenic trait. It associates abnormalities of the neural tube (encephalo or occipital meningocele more seldom hydrocephaly) and of the extremities (post axial polydactyly) with multicystic dysplasic kidneys. When diagnosed in a conception product, it allows one's to provide an appropriate genetic counseling as well as an early and followed-up surveillance of the next pregnancies in the affected sibship. Taking the example of two families, the authors emphasize the difficulties in diagnosing this affection (mainly due to its various expressions) and the various methods available for its pre-natal detection.
The systematic seek of an increased activity of the SCK among all newborns has permitted the detection of the Duchenne-type muscular dystrophy in the "Rhone-alpes" area. By the survey of 40,000 births during 5 years and the detection of 16 Duchenne-type muscular dystrophies the authors estimate the incidence of DMD at 1/6500 living new born boys. The number of false positives (1,5 p. 1000) is little and, up to now, no false negative has been recorded. A few boys and girls keep and increased activity of the SCK, and 3 boys hae a Becker-type muscular dystrophy.
The detection of Duchenne muscular dystrophy in the neonate by a determination of the serous activity of CPK allowed the authors to study the muscular, clinical and histopathological features among 14 boys born from 1976 to 1979, showing a raise in the enzymatic activity, confirmed during the first 6 months. 11 boys showed a Duchenne muscular dystrophy, and 3 likely a Becker muscular dystrophy. The authors point out the interest of early findings of hyaline degeneration of the fibers and indicate the variations, from one case to another, of the histopathological evolution in the pre-symptomatic stage. A well examined muscular biopsy is usually conclusive without using an electron microscope, from the age of one year, if serous activity of CPK reaches twenty times the normal rate. If not, waiting for the age of 2 would be advisable, since the initial lesions of the Becker D.M. are not yet clearly defined. When no systematic detection and no familial context, a dosage of the CPK serous activity should be made in the last during the third year, on every boy revealing an unexplained motor retardation. In that purpose, a definition and an application of a motor development score are proposed.
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Systematic neonatal screening programme for DMD has been set up since June 1975. Constant and specific SCK increase in DMD newborn can be found on whole dried blood between the 5th and 8th day after birth. The amount of false positives is small : 1,6%. At the first control, DMD diagnosis is very probable and is made certain by EMG and muscle microscopic observations. For a period of 3 years and 6 months, we have achieved 138 579 screening tests, and 12 DMD were found, among 71 091 boys (1/5 929 male births). Genealogical data from 11 families out of the 12 lead to identify 93 women relatives as possible carriers; 23 of them are menstruating women who benefit by recognition and receive genetic information several years before the DMD clinical diagnosis in the first family's proband could have been done. Systematic neonatal screening programme for DMD seems to be a means to reduce the incidence of DMD to the theoretical mutation cases.
More than 15% of cases of Duchenne muscular dystrophy (DMD) may be preventable by the neonatal diagnosis of another affected relative. Systematic neonatal screening seems a more efficient way of getting information for genetic counseling. The principle of the test described is the detection of a specific increase of the activity of Creatine-Kinase (CK) in the blood of newborn children with myopathy. Blood may be spotted on paper and posted to a central laboratory. Furthermore this program can be integrated into the systematic screening of phenylketonurie. The specificity and accuracy of the bioluminescent reaction used for the evaluation of CK suggest that this screening reaction is reliable. A systematic neonatal screening program for DMD such as ours in the Rhône-Alpes area (France) will lead to frequent recourse to prenatal diagnosis now possible through sex fetal determination and which would be possible through in utero blood sampling.
A case of bisalbuminemia of slow type was discovered in a 41 year old woman with obesity, diabetes mellitus and hypertension. This abnormality was discovered in six other members of the family and was thus hereditary. After a description of the laboratory tests used, the various forms of bisalbuminemia are described together with the circumstances of onset of the acquired forms, the biochemical and metabolic characteristics of the hereditary forms and their mode of transmission. Bisalbumin is present in all races. The mother of our case was of Italian origin, which permitted us to classify this case with others of Italian origin.
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