[Perturbations of early interrelations. Maternal pathology and children of risk].
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Biomedical subjects
Publications and source records attributed to P Tridon.
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The authors report the case of a 10-year-old girl who died after suffering from severe erythromelalgia combined with digestive and general disorders associated with multiple vegetative disturbances (high blood pressure, hypothermia, colic and urinary disorders, raised catecholamine levels) for 2 years. Although the appearance of the tongue was normal and in spite of the absence of genetic criteria the diagnosis of Riley-Day dysautonomia was made and its association with neural crest disorders was indicated.
The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male-to-male transmission, suggests an X-linked inheritance. The paper describes seven families from five European Centers.
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The observed cases deal with six generations. The penetrance is there complete and the male diseases more frequent. The fifth generation shows infantile and youth disease that proceed from fatherly transmission during several generations. The anticipation is discussed, as well as possible genetic counselling and the psychological effects upon mothers.
A t(X;9)(p11;q34) is reported in a girl with incontinentia pigmenti (IP). The X breakpoint is at p11.21. Although no similar case has been reported, this breakpoint may be significant insofar IP is considered an X-linked dominant mutation and could be of help in a specific X DNA probes study.
Three cases of unusual traumatic spinal cord injuries are reported. The cases were referred to the neurosurgical unit of Nancy, one tetraplegia and one paraplegia caused by transfixing wounds which were overlooked after the injury. The transfixing wound caused an associated meningitis with tetraplegia, and in the second case the initial small plural effusion associated with paraplegia even, in a very short while, evoked a possible diagnosis of leukaemia amongst others, until the knowledge of trauma had been ascertained, the child being then immediately transferred to the neurosurgical unit. Spanking, in the last case, was the cause of an important luxation of T12-L1, at first with a complete paraplegia, and was associated with the fact that the child was only seen a few days after by a doctor and immediately referred. The child made a full recovery from his paraplegia.
The use of Carpipramine in 35 children and teenagers, most of them suffering from psychosis, has confirmed its beneficient action in the majority of those cases (5 negative scores for 20 good and very good scores). The early-observed improvement concerned inhibition, lack of energy, moroseness, favouring the patients' integration in the institutional context.
A statistical study, using a computer, of 343 epileptic women with 775 pregnancies led to the following conclusions: 1. The influence of pregnancy on epilepsy is very variable: null once out of 2 times, pregnancy is more often favourable than unfavourable in the remaining 50% of the cases. 2. The influence of epilepsy on pregnancy seems to be null with regard to the course of pregnancy, its termination and the post-delivery period. The perinatal mortality rate is, however, higher. 3. Concerning the very present question of the teratogenic risk due to anticonvulsants, it appears that an epileptic woman has a slightly higher risk to bear a child with a congenital defect than does a non-epileptic mother; 4.04% of malformations in treated epileptic women, 2.32% in non-treated; 2.2% and 1.8% in two control groups.
A rapid and easy method for determination of diphenylhydantoin and phenobarbital in plasma by gas liquid chromatography which provides monitoring of epileptic patients therapy is described. These drugs are extracted from plasma by partitioning between cholroform and buffered aqueous phase. The final extract is evaporated to dryness and the residue dissolved in an internal standard (methaqualone) solution. An amount of the final extract is injected tnto OV1 3% column at 230degreeC without previous derivative formation. The results are compared to those obtained by thin layer chromatography followed by colorimetry.
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