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D Cau

Publications and source records attributed to D Cau.

16 recordsLinked to original sources

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

BACKGROUND: Aicardi-Goutières syndrome (AGS) is an autosomal recessive, early onset encephalopathy characterised by calcification of the basal ganglia, chronic cerebrospinal fluid lymphocytosis, and negative serological investigations for common prenatal infections. AGS may result from a perturbation of interferon alpha metabolism. The disorder is genetically heterogeneous with approximately 50% of families mapping to the first known locus at 3p21 (AGS1). METHODS: A genome-wide scan was performed in 10 families with a clinical diagnosis of AGS in whom linkage to AGS1 had been excluded. Higher density genotyping in regions of interest was also undertaken using the 10 mapping pedigrees and seven additional AGS families. RESULTS: Our results demonstrate significant linkage to a second AGS locus (AGS2) at chromosome 13q14-21 with a maximum multipoint heterogeneity logarithm of the odds (LOD) score of 5.75 at D13S768. The AGS2 locus lies within a 4.7 cM region as defined by a 1 LOD-unit support interval. CONCLUSIONS: We have identified a second AGS disease locus and at least one further locus. As in a number of other conditions, genetic heterogeneity represents a significant obstacle to gene identification in AGS. The localisation of AGS2 represents an important step in this process.

Basal Ganglia Diseases↗

Respiratory development of 5- to 6- year-old children experiencing a first bronchiolitis episode before age one.

BACKGROUND: The relationship between early infections due to respiratory syncytial virus (RSV), particularly bronchiolitis in infancy, and the subsequent development of asthma, bronchial hyper-responsiveness, and/or other allergic manifestations, seems increasingly certain, even if the mechanisms involved are not yet quite clear. OBJECTIVES: The objectives of this work were to determine the prevalence of, and risk factors for, asthma and allergy in 5 to 6 year-old children who five years previously, had experienced their first episode of bronchiolitis before the age of twelve months, and to define the possible effect of the age at which the bronchiolitis occurred on the subsequent development of asthma. METHOD: A retrospective cohort survey was conducted, based on the registers of two hospital paediatric emergency units (Unit A: the Ambroise Pare teaching hospital at Boulogne, France and unit B: the General Hospital of Cherbourg, France). The cohort comprised 5-6 years old children who had consulted or been admitted to emergency unit A or B between October 1993 and March 1994 for a first attack of bronchiolitis before the age of 12 months. RESULTS: One hundred and twenty eight children were included in the two centres (centre A: 78; centre B: 50). A familial history of allergy was found in 92 children (71.8%). Fifty-two (40.6%) were exposed to tobacco smoke. One hundred and five children (81.2%) had been hospitalised during the first episode of bronchiolitis, but none had been placed in intensive care. Their mean age at admission was 5.1 months, and 29 children were less than three months old. Ninety seven children (75.8%) had experienced at least one episode of wheezing at some time of their life. In the twelve months before the telephone interview, 40 children (31.3%) had had at least one such episode, 47 (36.7%) an attack of asthma, 32 (25.0%) wheezing after an effort, 43 (39.4%) a dry cough at night, 52 children (40.6%) had exhibited allergic rhinitis signs, and 32 (25.0%) eczema. Among the 47 children who had experienced at least one attack of asthma during the previous twelve months, 27 (57.4%) had a history of familial asthma (p<0.04). This was the only significant relationship observed in this study with regard to risk factors for asthma. No relationship was observed between asthma or recent wheezing on the one hand, and on the others age less than three months during the first bronchiolitis episode (p=0.6), initial hospital admission (p=0.6) tobacco smoke exposure (p=0.27), sex (p=0.10) or day care management until age three (p=0.73). DISCUSSION: This study showed a high prevalence of asthma and other allergic manifestations in children who five years previously, had experienced their first bronchiolitis episode before the age of twelve months. The only risk factor for asthma or chest wheezing identified in this study was a familial history of allergy. These data support the idea that for most children, early acute bronchiolitis, even if severe, is a transient event, with no or very few consequences in the middle or long term. Nevertheless it may be the expression of an interaction between viral infection and atopic familial predisposition leading to lasting bronchial hyper-responsiveness.

Age of Onset↗

Trisomy 18 mosaicism in a mildly retarded boy with postnatal overgrowth.

We report a 6-year-old mildly retarded boy with trisomy 18 in 44% of peripheral lymphocytes. He had mild nonspecific dysmorphic features, microcephaly, micropenis with cryptorchidism and postnatal overgrowth. Trisomy 18 mosaicism was confirmed by a fluorescent in situ hybridization study. Ten previous reports of trisomy 18 mosaicism with normal or subnormal intelligence have been described but only one case of trisomy 18 mosaicism with high stature has been reported.

Child↗

Volvulus of the sigmoid colon as a complication of segmental dilatation of the colon. Report of 2 cases.

Sigmoid volvulus is an unusual cause of intestinal obstruction in children. We report two cases of sigmoid volvulus as a complication of segmental dilatation of the colon occurring in two girls (5 years old and 9 years old) previously treated for chronic constipation. In both cases the constipation had been recognised since the neonatal period mimicking a Hirschsprung's disease, a diagnosis which has been excluded after rectal biopsy. The delayed diagnosis of segmental dilatation of the sigmoid colon followed the volvulus. Segmental colonic resection resulted in both cases in the cure of the constipation.

Child↗

X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female.

A female patient with features of hypohidrotic ectodermal dysplasia (HED) was found to be a carrier of a de novo t(X;12) with a breakpoint in Xq13.1. This is the second instance of an X/autosome translocation, with apparently the same X breakpoint, reported in HED.

Child, Preschool↗

[Prevention in pediatrics in the Nord-Cotentin. Prospective study of 255 cases].

Over a 4 month period, the medical records of 255 children with an age range of 6 months to 3 years and who had been admitted to the Cherbourg Hospital Department of Pediatrics were prospectively studied. Ninety-nine % had received BCG vaccination but only 71% had a positive skin test. Ninety-two % were vaccinated against diphtheria, tetanus, whooping cough and poliomyelitis and 61% against measles. Seventy-eight % of parents said that they had correctly administered vitamin D, at least up to 18 months of age. Seventy % of children were fed cow's milk during the second half of the first year and at least 35% had at least one hematological sign of iron deficiency. The promotion of routine immunizations as well as vaccination against rubella-mumps-measles seems to be desirable goals. There is a need for the widespread use of adapted milk formulas up to 1 year of age and for systematic iron supplementation of pregnant women and of infants presenting with evidence of iron deficiency or on cow's milk.

BCG Vaccine↗

[Adolescent medicine: who cares for what?].

The expression of adolescence can be defined as a psychic maturation crisis. The purpose of this study was to better understand the specific institutional and health care needs this particular age group requires. The authors have analysed the nature of adolescent care within a pediatric ward, using data obtained from interview material. There was a growing awareness among the staff that feelings of rejection and alienation often jeopardize the delivery of optimal care to adolescents. This idea helped define the final formation of a unit designed for adolescents. The particular characteristics of such a practice are illustrated in the paper. In doing so, an effort was made to remain objective and to respect the ideas originated by the staff.

Adolescent↗

[Leukoencephalopathy in childhood leukemia (author's transl)].

Severe leukoencephalopathy occurred in three of thirty children after preventive central nervous system therapy (24 gray cranial and intrathecal methotrexate) for acute lymphocytic leukemia. Two of these children, in complete remission although chemotherapy was discontinued, have major neurological defects. This preventive therapy remains mandatory but some modifications could be discussed. The mechanism and the possibilities of prevention or of early recognition of this severe neurological impairment are discussed with references to other published cases.

Adolescent↗

[Neonatal intestinal obstruction due to congenital hypothyroidism (author's transl)].

Three children with subacute neonatal intestinal obstruction are described in whom the diagnosis of congenital megacolon was suspected. The radiological changes improved when oral feeding stopped but reappeared when it was restarted. The aetiology remained unrecognised until the results of the neonatal screening for hypothyroidism showed all three cases had congenital hypothyroidism. The severity of the disorders was unusual and remains unexplained. Systemic TSH and/or T4 determinations should lead to a better understanding of the disorders due to hyperthyroidism in neonates.

Congenital Hypothyroidism↗

[Schwann cell pathology and axonal reduction in a case of congenital neuropathy with hypomyelinization].

A case of congenital dysmyelinating neuropathy is reported, in which computerised morphological analysis showed a prominent loss of fibers with large axons, in addition to overall thinness of myelin sheath. Ultrastructural examination showed aberrant formation of basal lamina and abnormal ensheathment by Schwann cells of both myelinated and unmyelinated fibers. Hypomyelination appears to be only one aspect of this neuropathy, in which axonal pathology plays a major role.

Axons↗

[Multiple sclerosis and unilateral deafness].

A girl complained of unilateral hearing loss, vertigo, and ipsilateral symptoms of trigeminal and facial involvement. Negative neuroradiological evaluation, C.S.F. study and clinical outcome allowed to retain the diagnosis of multiple sclerosis (M.S.). Unilateral abnormalities were recorded on the auditory evoked potentials, localizing the lesion immediately after the auditory fibers enter the brain stem. An unilateral hearing loss does not rule out M.S. in vertigo syndromes, and auditory evoked responses are a diagnosis aid.

Adolescent↗