Biomedical subjects
Publications and source records attributed to M Pierson.
Clinical and cytogenetic studies are performed on 14 patients with PWS including endocrinological investigations, as coagulation factor XI activity and pigmentation studies. Recent hypothesis from molecular analysis are discussed.
This paper reports a case of Alagille's syndrome, in association with a translocation 46,XY,t(4;14)(q21;21). The possible relationship between this autosomal dominant syndrome and the apparently balanced chromosomal rearrangement is discussed.
When assessing a child with short stature it may be difficult to differentiate between delayed growth and adolescence and constitutional short stature, which usually provide a completely different prognosis of adult height. The growth data on 43 boys were retrospectively studied after they had reached adult height. Two groups were differentiated according to their final height, i.e. boys with delayed growth and adolescence; and boys with constitutional short stature. From these data a discriminant analysis was worked out that could be used as a means to facilitate the prediction of adult height in boys short stature.
Fifty-nine children with end stage renal disease treated by hemodialysis or renal transplantation have been assessed for linear growth. Mean follow-up duration of study was 6 years (0.25 to 15.5 yr). At the beginning of hemodialysis, the mean growth delay was 2 SD. Every year, prepubertal children were affected by a growth delay of 0.50 SD whereas pubertal children caught up by +0.10 SD. In patients with renal transplantation, the mean growth curve remained at the same standard deviation once the transplant had been performed. An increase in growth was exhibited in about one-third of this group provided the transplant functioned satisfactorily and the patient was under 11 years of age. The characteristic pubertal linear growth spurt was delayed and demonstrated a lower amplitude than in normal children; but if it took place over a prolonged period, a better final height was obtained. The mean final stature was about 2 SD. There was strong variability in the final height according to the age of renal failure onset, renal transplantation and the level of renal function. Bone age allowed adult height to be predicted. Metabolic disorders have to be dealth with as soon as possible in order to limit growth impairment.
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Two cases of interstitial deletion of chromosome 15 with similar clinical features are presented. In one case, assay of hexosaminidase A enabled us to confirm that the structural gene is located between 15q22 and 15q25 and that it is included in the deletion.
Among the group of hereditary histodysplasia, Bourneville's tuberous sclerosis demonstrate original and important place. Its clinical and histopathological polymorphism make more difficult the diagnosis because many symptoms are non specific and/or appeared at different age of life. The variability of the expression and of the penetrance are a very serious unpeachement for the genetic counselling. A recent reevaluation of several series of case reports seems to demonstrate that the frequency of new mutations has been probably surestimated. The gene location in 9q3-4 is quite certain and will induce soon the possibility of a more efficient prenatal diagnosis. The gene action mechanism at the embryonic development is probably correlated with the "oncogene character" of the specific mutation.
In most occasions the Turner's syndrome is diagnosed on the basis of severe growth retardation. But the possibility of an effective treatment of short stature requires earlier a diagnosis. Among the other signs, the importance of ORL signs is underestimated. A group of 30 patients has been analysed to determine their precise extension. The external ears are frequently prominent, low-set and/or posteriorly rotated. Frequency and chronicity of otitis media is highlighted by hypoacousy of the transmission type. The perception pathology is far less common and seems being independent of middle ear pathology. A abnormal development of the 1st branchial arch is likely to explain the auricular pathology in view of the frequently associated anomalies of the palate and the dental articulation. One must clearly consider the diagnosis of Turner syndrome in the case of chronic auricular pathology associated with low linear velocity in a young girl allowing for earlier diagnosis.
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The variability of clinical and biological expression of the 21 OH hydroxylase deficiency is likely to be related to genetical variability. Beside the well known autosomic recessive mode of inheritance the frequencies of the different forms of the disease, especially the classical and late onset form, have been more precisely defined through neonatal screening programs for the classical form which lead to a frequency of about 1 case/20,000 with a calculated gene frequency around 1/140. The linkage with the major histocompatibility complex allows the location of the putative locus of the 21 OH ase on the short arm of the chromosome 6 in the class III of the MHC. This linkage has made possible a better fetal diagnosis even if some pitfalls as recombination must be kept in mind. On the basis of clinical conditions the abnormal genes are likely to be considered as an allelic series with a least two main types of pathological alleles: the "severe" and "moderate". During the last two years, taking advantages of molecular gene biology, the structure of the normal human 21 OH ase gene has been studied. It exists as duplicate genes in close relation with the gene of the fourth component of the complement. A deletion of one of the copy has been demonstrated in the form associated with the BW47 MHC haplotype. It is likely that during the coming years genetical heterogeneity will be demonstrated as it has been for other genetic diseases as thalassemia.
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Among mumps complications, encephalitis is the most frequent. Involvement of the basal ganglia has been previously reported associated to some other encephalic lesions. In one case, changes were confined to basal ganglia and occurred at the 10th day of evolution of mumps. Clinically a bilateral extrapyramidal syndrome was present without other neurological disorders. CT scan showed bilateral lesions in the area of the basal ganglia. The course was favorable. The neurological examination and CT scan were normal 6 months later. Such complications should be prevented by vaccination.
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Twenty five of the 75 patients having been given human growth hormone in the Pediatric Nancy Endocrinological Division have reach final adult height. All have been treated the same way, 10 boys and 4 girls were diagnosed as isolated deficit, 7 boys and 4 girls as combined deficit. The physical, sexual, radiological, intellectual, professional and psychological characteristics have been defined either during the treatment follow-up or at a final interview. All results have been compared to the familial conditions if possible. Final adult statures are in the low range of the normal (-2 DS). The sexual development, normal for patients with isolated deficit, has not been achieved completely by regular protocol for patients with combined deficit. The intellectual and professional achievements are rather low but this has to be matched with below the normal familial conditions. Psychological determination is quite satisfactory but the personality is dominated by shyness and lack of responsibility. It is likely that an earlier onset of treatment and a better psychological guidance may lead to a better final results judged both on physical grounds but also on psychological and professional conditions.
The authors compare the effects of treatment with thyroid extracts and levothyroxine on T3, T4 and TSH levels in 2 groups of 8 hypothyroid infants. Serum TSH levels were lower in infants receiving thyroid extracts on and after the 15th day. The interest of a treatment associating T4 and T3 and of adapted doses of LT4 is discussed.
A study of electroencephalographic changes in six children during hemodialysis sessions was done in order to evaluate the effects of four different dialysis strategies: acetate or bicarbonate dialysates (sodium 142 mEq/1), acetate dialysate with high sodium concentration (148-150 mEq/1), and hemodiafiltration. There are basic activity alterations in all cases except during bicarbonate dialysis sessions. Alterations are, however, less pronounced during dialysis sessions with high sodium concentration dialysate. No strict concordance between clinical manifestations and electroencephalographic changes was observed. However, better tolerance of bicarbonate dialysis sessions is assessed with respect to clinical symptoms as well as electroencephalograms.