Biomedical subjects
Publications and source records attributed to B Lauras.
We present a fetus with an umbilico-cephalic adherence, probably secondary to an early amnion rupture. The fetal ectoderm and the collagenous layers of the chorion can attach as large amounts of fibronectin are present in the amniotic fluid. Until now, no case of this particular type of "amnion rupture sequence" syndrome has been reported.
Two cases of sirenomelia with multicystic renal dysplasia (Potter's type II A) are reported. One case was discovered on fetal ultrasonography. Multicystic renal dysplasia in sirenomelia is an additional plea for a primitive mesoblastic defect in the caudal regression syndrome.
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A karyotype 46,XY,20q-(q13 leads to qter) was found in an infant with severe mental deficiency, epilepsy, and the following dysmorphic features : upward slanting palpebral fissures, hypoplastic nasal bridge, bulbous nose, long philtrum, microretrognathia, and aplasia of the middle phalanx of fingers and toes. Adenosine deaminase activity was within the hemizygous range, permitting regional assignment of the ADA locus to 20q13 leads to qter.
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We study the chart of a new born with an oesophageal atresia. The weight of baby is two pounds and half and clinic look seems moderate: a gastrostomy and feeding jejunostomy are decided. After anaesthetic induction, intubation is impossible, and the tube knocks just under the vocal cords. Dilatations are no possible, and a straight approach is undertaken to cut stenosis and allow an extended intubation. Immediate and distant post operative series have brought the authors on abstract of their attitude after a review of literature.
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Clinical, radiological and biochemical findings are described in a male newborn with type VII mucopolysaccharidosis (betaglucuronidase deficiency). A metabolic storage disease was likely at birth, because of morphological and radiological features and granulated cells in blood and bone marrow. A study of glycosaminoglycans has been performed in urine and various organs post mortem. Enzymatic deficiency was found in serum, leucocytes, skin fibroblasts, liver, spleen and kidneys. Low activities were present in both parents.
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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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