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Biomedical subjects

M L Briard

Publications and source records attributed to M L Briard.

At least 73 records · Page 4Linked to original sources
PubMed1988

[Neonatal screening for phenylketonuria and hypothyroidism in France. A 12-year experience].

The authors report their experience in the systematic, co-ordinated and controlled neonatal screening in France: a coverage of approximately 100 per cent for several years, nearly 13 millions of tests for phenylketonuria and more than 7 millions for hypothyroidism, almost 850 phenylketonuric children and more than 1,600 patients with hypothyroidism, screened and taken care of. The frequency of phenylketonuria is estimated at 1 for 16,394 and the frequency of hypothyroidism at 1 for 4,041. They insist on the need for a strict investigation of false negatives and point out a few specific points on the care of affected children. Overall, the assessment of neonatal screening is positive since it has allowed 2,500 children, doomed to mental retardation, to have a normal growth.

Anemia, Sickle Cell↗
PubMed1988

[Genetic counseling in craniostenosis. Results of a prospective study performed with a group of studies on craniofacial malformations].

Result of a family study based on 584 patients with craniostenosis brings some answers useful for genetic counselling. For 98 patients (15%) a syndrome is associated. Third part of them has Apert syndrome, an other third part has Crouzon syndrome, and for the last third more exceptional acrocephalosyndactyly syndrome (Saethre-Chotzen, Pfeiffer) or others atypical associations, sometimes not yet described, but with an autosomal dominant inheritance. Non syndromic craniostenosis involves differently according to the type of join, but the localization is the same if recurrence will be happen. Coronal craniostenosis seems to be a dominant autosomal character, when scaphocephaly is more often sporadic; for both, an autosomal dominant inheritance is not excluded for some pedigrees. If the recurrence risk exist in some cases, it is generally well accepted by parents on account of the good neurosurgeon prognosis.

Dysostoses↗
PubMed1988

Genetic counselling, carrier detection, and prenatal diagnosis in hemophilia. A service experience.

Our experience over three years (1984-1986) is described in carrier detection and prenatal testing for hemophilia. We have analysed 50 families: 37 hemophilia A and 13 hemophilia B, 22 isolated cases and 28 familial. Eighty-three women belonging to this panel asked for a genetic risk. Pedigree and coagulation studies were performed to estimate genetic risks according to the Bayesian method. At this point, 40% of the females at risk were recognized carriers before the DNA analysis. Molecular biology allowed the detection of only 7% more carriers and the exclusion of 34%. In 19% of the cases, it was impossible to estimate the genetic risk because the families were uninformative for the DNA polymorphisms used. Twenty-two prenatal diagnoses were performed; 3 affected male fetuses were recognized by DNA analysis and pregnancies were terminated. Eleven healthy boys were born.

Blood Coagulation↗
PubMed1988

CFC syndrome: a syndrome distinct from Noonan syndrome.

We report two children with a common pattern of birth defects. Both have very sparse, curly hair, nystagmus and mental retardation. The first one has Noonan syndrome habitus associated with keratosis plantaris and nystagmus; the second one has a slightly Noonan-like face, macrocephaly, keratosis pilaris, and hypertrophic cardiomyopathy. They represent the extreme of a spectrum of congenital defects recently reported independently as CFC syndrome by Reynolds and as "Noonan-like short stature syndrome with sparse hair" by Baraitser and Patton. The clinical features are reviewed and the autonomy of the syndrome with regards to Noonan syndrome, is disputed, since every sign seems to occur independently in Noonan syndrome. The father of the second case probably has a minor syndrome expression, pointing to probable autosomal dominant inheritance.

Abnormalities, Multiple↗
PubMed1988

[Bourneville's tuberous sclerosis and genetic counseling. Study of 36 families].

From their own experience, the authors grapple with the difficulties of the genetic counselling in the tuberous sclerosis. They dwell on the necessity of undertaking a very full assessment in the parents of the apparently isolated cases. It includes skin examination, fundoscopy, cranial CT scanning, renal imaging and echocardiography. After these investigations which may need to be done to make or to exclude the diagnosis, it will be possible to quantify new mutations. Nevertheless the exceptional description of pedigrees with incomplete penetrance cannot be forgotten for the genetic counselling. It is likely however that most of these problems will not be resolved until accurate genetic markers are obtained.

Genetic Counseling↗
PubMed1988

[Marfan disease].

After reviewing the main features of the Marfan syndrome (musculoskeletal, ocular, cardiovascular, pulmonary abnormalities), its autosomal dominant inheritance with high penetrance but variable phenotype and presence of "soft" conditions preventing an easy diagnosis, the authors report their own data relevant to 73 probands: ratio of each clinical manifestation, state of 34% of familial cases and display of a paternal age effect in the sporadic cases. The pathogenic defect is unknown as like the location of the gene. The difficulties of the genetic counseling are then approached: unpredictability of the severity and of the prognosis in the unborn children of an affected patient, benefit of the echocardiography in the management of people at risk.

Genetic Counseling↗
PubMed1988

[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)].

We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome.

Abnormalities, Multiple↗
PubMed1988

[Evaluation of the risk in autosomal dominant diseases].

A lot of traps and difficulties complicate the estimation of a genetic risk in the autosomal dominant diseases. The authors recapitulate the notions of mutation, penetrance and variability and illustrate by some examples the part of each of them, isolated or associated together. The increasing of molecular biology allows to resolve some of these problems, but generate new dangers which are analysed and illustrated.

Genes, Dominant↗
PubMed1987

Hypothyroidism in children with filter paper TSH of 30 to 50 microU/ml at initial screening. Implication of the TSH cut-off point for recalling of infants at risk.

In a systematic screening of newborns in France during the period from 1979 to 1983, 959 infants with hypothyroidism were detected. In 16 cases of confirmed hypothyroidism the initial filter paper TSH (FP-TSH) was between 30 and 50 microU/ml. These cases emphasize the necessity of keeping a "security zone" for FP-TSH value between 30 and 50 microU/ml and of recalling these patients for a second test filter paper TSH.

Child, Preschool↗
PubMed1987

[Genetic counseling and prenatal diagnosis in Duchenne myopathy: yesterday, today and tomorrow].

The coming of molecular biology has greatly modified the concept of genetic counselling and prenatal diagnosis of Duchenne muscular dystrophy. The most important stages of the genetic counselling are reported: estimate of the risk and carrier detection. This heterozygote detection is now possible in a few cases owing to polymorphic DNA markers recently identified that are genetically linked to the DMD gene locus and detected with probes. An analysis of foetal DNA is also possible and allows us to consider prenatal diagnosis of this affection. This study is yet limited by two impediments: on one hand low rate of informative families, on the other hand use of markers that are not very closely linked to DMD involving recombinations and risks of errors. The solution of these problems is in the use of linked DNA markers with the best polymorphism flanking the Duchenne muscular dystrophy locus. Finally the authors report the necessity of strict collaboration systems between clinical experts, geneticists, biologists and informaticians.

Female↗
PubMed1987

[Congenital or neonatal hypothyroidism with filter-paper levels of TSH less than 50 microU/ml. Conclusions on the detection strategy in France].

Between 1979 and 1983, 959 hypothyroid infants were discovered by the neonatal screening program in France. Sixteen had filter-paper TSH levels between 30 and 50 microU/ml: one was athyroid, ectopic thyroid in 5,10 had thyroids in place. These latter 16 cases argue for a second TSH control-value for filter paper TSH values between 30 and 50 microU/ml.

Congenital Hypothyroidism↗
PubMed1987

[An unrecognized etiology of sexual ambiguity: Smith-Lemli-Opitz syndrome or a new entity?].

The authors report three cases of a new syndrome which characteristic anomalies are facial dysmorphism with anteverted nose, down slanting palpebral fissures, ptosis, severe microretrognatia, polydactyly. The authors insist on the particular severe genital anomalies, the failure to thrive and the constant lethal issue. The authors discuss the diagnosis of Smith-Lemli-Opitz syndrome and suggest the possibility of a new entity always confounded with others associations characterized by a polydactyly and a sexual reversion in male.

Abnormalities, Multiple↗
PubMed1987

[Genetic counseling in intersexual states].

After they have considered the different causes of sexual ambiguities, the author report the difficulties of the genetic counselling in the way: on one hand, it may be impossible to determine etiological distinct in a few cases, on the other hand it often exists a clinical heterogeneity and small manifestations in affected individuals for the same anomaly. Antenatal diagnosis is approached: conditions, means as also ethic problems are discussed.

Disorders of Sex Development↗
PubMed1985

[Apropos of the molecular biology of Huntington's chorea].

The authors analyze some aspects of the two families published by Gusella and al. (linkage between H.D. gene and a RLPF) and underline the cases unable to be diagnosed because non-informative sibships. They emphasize the new ethics problems risen by the discovery of this linkage.

Adolescent↗
PubMed1985

[The place of prenatal diagnosis in genetic counseling (1982-1983)].

34.2% of couples seen during the years 1982 and 1983 for genetic counselling had some kind of familial anamnesis such as affected partner or relative or children. They could have benefit from prenatal diagnosis who would have been accurate informative twice on three times. Indications methods and accuracy are studied in consideration to the reason of referring and the level of the risk. Genetic counselling and prenatal diagnosis appear as preventive means adapted to each consultant. Otherwise systematic ultrasonography allows a true prevention from which 17.6% of the couples having give birth to affected children could have benefit.

Female↗
PubMed1985

[Genetic counseling. Indications, problems and prospects].

From their personal experience, the authors demonstrate that, in spite of increased requests in general, couples in underprivileged socio-cultural classes are insufficiently concerned by genetic counselling; on the contrary it is too often requested by women who are already pregnant. They emphasize the necessity of providing information to all at risk couples and the essential part taken by family doctors. They discuss the difficulties of geneticists when consulters do not express a real question or wait to be given a rule of behaviour. Antenatal diagnosis (proposed to 2 of every 5 couples in 1983) changed the concept of genetic counselling by replacing a probability (the risk) by a certainty (the child presents with the disease or is normal). However, one should not look to either genetic counselling or antenatal diagnosis for a considerable decrease in the incidence of affected children.

Female↗