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Biomedical subjects

P Guibaud

Publications and source records attributed to P Guibaud.

At least 91 records · Page 5Linked to original sources
PubMed1981

A local outbreak of femoral hypoplasia or aplasia and femoral fibula-ulnar-complex.

The authors describe an outbreak of femoral hypoplasia or aplasia, isolated or associated with fibular or/and ulnar anomalies (Proximal femoral focal deficiency or FFU Complex). The epidemic seems to be limited in place (Rhone-Alpes region in France), and in time (starting late 1979 or early 1980 and apparently maintained during 1981 with an excess of winter-born patients). All the cases are sporadic and clinically strictly unilateral. An hereditary factor does not seem to play a role. No iatrogenic agent, no radiation exposure, no infectious diseases can be incriminated. The hypothesis of a responsible chemical teratogenic product suddenly introduced in the Rhone-Alpes region in 1979 is arising. The difficult inquiry is going on with finer analysis. This aggregation of unusual malformations is a typical example of what can be found at monitoring of birth defects.

Female↗
PubMed1981

[Neonatal screening for duchenne myopathy by serum elevation of creatine phosphokinase activity. 5 years experience].

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.

Clinical Enzyme Tests↗
PubMed1981

[Early clinical and histopathological manifestations in 14 boys showing elevated serum creatine-phosphokinase levels in their first year].

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.

Biopsy↗
PubMed1980

Beta-glucuronidase deficiency: enzyme studies in an affected family and prenatal diagnosis.

A beta-glucuronidase deficiency found in serum, leukocytes and fibroblasts and an increased [35S]sulphate incorporation in fibroblasts led us to diagnose two cases of type VII mucopolysaccharidosis in one family. In spite of the wide distribution of activities in serum from controls, decreased beta-glucuronidase activity allowed us to demonstrate the heterozygous status of the parents and two other children. Following these studies, and antenatal diagnosis was performed when the mother was pregnant again; amniotic fluid and cultured amniotic cells were used for enzyme activity determination. A heterozygous fetus was suspected and confirmed after birth. The reliability of various biological materials for enzymatic diagnosis and existence of genetic variants in the normal population are discussed.

Amniotic Fluid↗
PubMed1979

[Mucopolysaccharidesis Type VII resulting from beta-glucuronidase deficiency. Report of one family].

The patient is a north african female, fourth born child in a family with consanguinity. Facial dysmorphia, clubfeet, swollen extremities and heel borne ponctuate calcifications are observed soon after birth. beta glucuronidase activity is very low in serum, leukocytes and skin fibroblasts. At 18 months, gorwth and psychomotor development are normal. Flat facies and dorsolumbar cyphosis are striking. There is no clinical sign of storage disease, neither ocular or cytologic (blood, bone-marrow) abnormalities. Squeletal abnormalities are predominant on cervical and lumbar column and pelvis. Urinary excretion of chondroitin 4 sulfate and chondroitin 6 sulfate is increased. A 4 year old sister is affected. Facial dysmorphia, mild squeletal abnormalities are observed. Again, growth is normal and there is no symptom of storage disease. Enzymic expression of parent heterozygotism is marked in serum studies, but less marked in leukocytes and fibroblasts. The last two children are heterozygotes. At the time of a 5th pregnancy, enzymic activity studies of amniotic fluid and amniotic cells have shown that the foetus was an inaffected female. This child was normal at birth.

Abnormalities, Multiple↗
PubMed1979

[The status of chromosome mapping in man. II. Results and applications].

In the first part, the authors review the different methods used in gene mapping studies. In the second part, human chromosomes map is studied in details. The scientific usefulness of the map is summed up and the first applications in the field of genetic counselling are mentioned. Finally the forthcoming therapeutic applications are being planned at the time.

Chromosome Mapping↗
PubMed1979

[Familial tubulopathy associating hypercalciuria and saline diabetes. Favorable results of indomethacin therapy].

The association of hypercalciuria, salt losing renal disease, and a defect in urine concentrating ability with high renin and aldosterone levels is described in two brothers. One child had marked nephrocalcinosis by the age of 3 and the other severe growth retardation. In one child all the abnormalities were abolished with indomethacin which was responsible for a marked decrease in urinary. The data and the family study suggest that this condition is a proximal tubular disorder with atuosomal recessive inheritance.

Aldosterone↗
PubMed1979

[Distal renal tubular acidosis: report of 3 cases].

Three observations of R.T.A. with nerve deafness are reported. Case 1 and 2 concern consanguinous brothers whose parents are not affected, which confirm the syndrom as an autosomal recessive entity. The third, sporadic, case relates to a 13-year-old non consanguinous girl. Metabolic abnormalities and renal evolution with nephrocalcinosis was such as in Albright disease. However a progressive nerve deafness makes distinction. The authors underline the importance of this sometimes difficult distinction for genetic counseling.

Acidosis, Renal Tubular↗
PubMed1979

[Significance and limits of alpha-fetoprotein levels in the prenatal diagnosis of malformations of the central nervous system].

Amniotic fluid or/and serum alpha-foeto protein (AFP) determination is used as a test-system for screening of neural tube defects. The physiologic basis of this screening are described taking into account the evolution of AFP concentration in foetal and maternal blood, and in amniotic fluid. As for all the biologic screening systems, the acquired experience reveals a lack of sensibility and specificity. First the authors analyse the analytic and biologic problems which have an effect upon sensibility; then, they consider the mechanisms which explain the specificity lack showing itself in some foetal malformations. Practically, interpretation of AFP results requires necessarily familial story and echography results. Taking into consideration the different problems concerning AFP, a programme to utilize the test-system is presented for prenatal diagnosis of malformations of central nervous system.

Amniotic Fluid↗
PubMed1978

[Infantile form of Gaucher's disease. Clinical and biological studies in 1 case. Prenatal diagnosis in 2 further normal pregnancies].

A clinical report of a typical case of infantile Gaucher's disease is given. Study of the beta-glucosidase activity in leukocytes and skin fibroblasts confirmed the diagnosis in the patient and established the heterozygote condition of the parents. Two later pregnancies have been monitored by enzymatic study of cultured amniotic fluid cells. Both foetuses were predicted to be healthy, which was confirmed after birth. The report includes a histopathological ultrastructural, chemical and enzymatic study of liver, spleen and brain obtained at autopsy. Possible clues to the physiopathological mechanism of the cerebral lesion are discussed.

Amniotic Fluid↗