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Biomedical subjects

M Berthier

Publications and source records attributed to M Berthier.

At least 19 recordsLinked to original sources
PubMed1995

[Hyperexplexia].

Hyperexplexia is a disease of neonatal onset characterized by an exaggerated startle reflex. Early diagnosis is important to rule out epilepsy. Clinical findings are mainly hypertony and generalized startle reflex which is exaggerated by tiredness and some exogenous stimuli. Electroencephalogram is normal. The expression of the disease is variable including minor forms that may be unnoticed and major forms with arthrogryposis-like symptoms, orthopedic complications, false passages, apnea and even sudden infant death (SID). The evolution is generally benign and symptoms disappear within 2 or 3 years. A neuromotor retardation is often present, without intellectual deficit. In severe forms, the risk of SID requires a multidisciplinary follow-up including monitoring and treatment with clonazepam. A low GABA level in cerebrospinal fluid has been reported. Present etiological hypotheses include neuromediator and/or receptor dysfunction.

Humans↗
PubMed1995

[Evaluation of the psychosocial care in maternity: experience at the Poitiers University Hospital].

BACKGROUND: High psychosocial risk pregnancies require specialized multidisciplinary help and follow-up in order to improve the outcome of babies. POPULATION AND METHODS: Thirty pregnancies were selected among 3500 and followed by a multidisciplinary team during 1990 and 1991. Evaluation included risk predictors, neurodevelopmental outcome of children at 9 and 24 months, number and time of judicial notifications. Evaluation of the mother-to-baby relationship by a psychologist as well as the environmental variables were performed. RESULTS: Four families had one or two, 20 families three or five and six families, six or more of the 15 risk predictors studied. Over the babies followed-up until the age of 24 months, four were placed out of the family, three hospitalizations were medically unjustified and there was no hospitalization for child abuse or neglect. Twelve children had development delay and two developed an environmental-related staturo-ponderal delay. Judicial notifications were realized 18 times during pregnancy or just after delivery and six times during the follow-up for child abuse and neglect. CONCLUSIONS: Taking care of high psychosocial risk pregnancies could be improved in special hospitalization units for mother and child. A better awareness of this problem could also improve the outcome of children, which remains very alarming.

Adolescent↗
PubMed1995

Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.

The synthesis of ferritin, the iron-storing molecule, is regulated at the translational level by iron through interaction between a cytoplasmic protein, iron regulatory protein (IRP), and a conserved nucleotide motif present in the 5' non-coding region of all ferritin mRNAs--the iron responsive element (IRE). This region forms a stem-loop structure and when the supply of iron to the cells is limited, the IRP is bound to IRE and represses ferritin synthesis. Ferritin is composed of a 24-subunit protein shell surrounding an iron core. The two types of subunit, H and L, are encoded by two genes located on chromosomes 11q13 and 19q13.1, respectively. Both genes are ubiquitously expressed but transcriptional regulation mediates tissue-specific changes in the H/L mRNA ratio and isoferritin profiles. We now report the identification of a single point mutation in the IRE of the L-ferritin mRNA in members from a family affected with dominantly inherited hyperferritinaemia and cataract. This mutation consists of an A to G change in the highly conserved CAGUGU motif that constitutes the IRE loop and mediates the high-affinity interaction with the IRP. We show that this mutation abolishes the binding of IRP in vitro and leads to a high constitutive, poorly regulated L-ferritin synthesis in cultured lymphoblastoid cells established from affected patients. This is, to our knowledge, the first mutation affecting the IRP-IRE interaction and the iron-mediated regulation of ferritin synthesis. We suggest that excess production of ferritin in tissues is responsible for the hyperferritinaemia and that intracellular accumulation of ferritin leads to cataract.

Base Sequence↗
PubMed1994

[Sleep apnea syndrome in obese patients: are there any predictive factors ?].

The aim of this study was to determine whether clinical, spirometric, or arterial blood gas data could predict sleep apnea syndrome (SAS) among obese patients with at least one functional complaint. Eighty three obese patients, 46 males and 37 females, aged 53.2 +/- 13.7 years, with a body mass index (BMI) above 30 kg/m2 were investigated with: clinical questionnaire; pulmonary function tests; arterial blood gas measurements; nocturnal monitoring of oronasal airflow, thoracic and abdominal movements, and arterial oxygen saturation. Thirty five patients (42.2%) had a SAS, 18 (26.7%) had nocturnal oxygen desaturations, and 30 (36.1%) had a normal nocturnal monitoring. There were 63% males in the SAS group and 32% in the group without SAS (P < 0.01). Age, weight, frequency of systemic hypertension, frequency of each clinical symptom, spirometric and arterial blood gas data were identical in the two groups. In conclusion, rate of SAS is very high in obese patients presenting a BMI above 30 and at least one functional complaint. No predictive test is identified.

Adult↗
PubMed1994

Possible involvement of a gamma-hydroxybutyric acid receptor in startle disease.

Startle disease or hyperreflexia is an autosomal dominant neurological disorder, with a neonatal onset, characterized by muscular hypertonia and myoclonic jerks, exaggerated by the slightest stimulus. Low concentrations of free gamma-aminobutyric acid (GABA) have been found in the cerebrospinal fluid of two affected infants. The involvement of GABA or its receptors has been raised and the use of GABA-agonist drugs has been suggested. We report a newborn with startle disease who also had a low concentration of GABA in the cerebrospinal fluid. No clinical improvement was observed with progabide, a GABA agonist. Furthermore, a high dose (100 mg/kg) of gamma-hydroxybutyrate (GHB) did not improve muscular stiffness and failed to induce general anesthesia. GHB, currently used as an effective general anaesthetic, is a structural analogue of GABA. It is present naturally at low concentrations in the brain and is regarded as an inhibitory neurotransmitter. Two specific GHB receptors, distinct from the GABA receptors, have been identified in rat brain. Failure to induce general anesthesia with a high dose of GHB suggests that one of these receptors could be involved in startle disease.

Anesthetics↗
PubMed1994

Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero.

We report a newborn with isolated aplasia cutis congenita of the scalp whose mother was treated with valproic acid during pregnancy. Aplasia cutis congenita has been described in infants exposed in utero to antithyroid drugs, but has not been related to other tetratogenic agents. Fetal exposure to valproic acid is known to increase the risks of spina bifida and other midline defects. Interestingly, aplasia cutis congenita of the scalp is regarded as a cutaneous marker for neural dysraphism. However, this defect of the scalp and valproic acid intake during pregnancy may be a random association and similar observations are needed to suggest causality.

Abnormalities, Drug-Induced↗
PubMed1994

[Intraosseous vascular access, a technic previously underestimated in France].

Intraosseous vascular access is a simple and very efficient technique for fluid and drug administration in any pediatric emergencies where the intravenous route is impossible or inadequate. Yet it remains unrecognized in France. Its pharmacokinetics is close to that of peripheral intravenous route, but it allows much greater infusion flow rates. In pediatric resuscitation it must be considered as the number one technique of intravascular access in infants, and rapidly as the first alternative after failure of attempt of intravenous route in children under 6. Provided that the technique is performed with careful asepsis, the risk of infectious complications is very low. However the intraosseous route must remain a transitory vascular access, and has to be stopped as soon as possible, its use never exceeding 24 hours.

Bradycardia↗