Biomedical subjects

Nadège Corradini

Publications and source records attributed to Nadège Corradini.

3 recordsLinked to original sources

PubMed2004

An ethics dilemma: when parents and doctors disagree on the best treatment for the child.

The increasing complexity of present day medicine--with highly effective and yet risky treatments, individual and collective expectations, and evolving ideological and cultural landmarks--often gives rise to difficult ethical problems. Specific meetings are valuable for understanding such problems, acquiring the relevant skills and for gaining and transmitting experience on how to solve them. Parents and doctors may disagree about what is the best treatment. Such a difference of opinion is not rare but usually a solution can easily be found. This is not the case when the child is treated for a severe illness and when there is no clearly defined or satisfactory treatment for him\her. We present how a dramatic conflict arose between the parents and the doctors faced with such a case (mostly because the staff failed to understand early enough the psychological factors at the root of the father's demands), how clinical, institutional and ethical problems were analysed during a meeting, and how they were solved.

Attitude of Health Personnel↗

PubMed2002

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.

A child with X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OL-EDA-ID) was recently reported. We report the clinical features of a second boy with this novel syndrome and his mother, who presented with signs of incontinentia pigmenti (IP). The child had mild osteopetrosis without neurosensory complications, unilateral lymphedema of the left leg, and characteristic features of anhidrotic ectodermal dysplasia with sparse hair, facial dysmorphy, delayed eruption of teeth, and sweat gland abnormalities. He died at 18 months of severe immunodeficiency with multiple infections caused by Gram-negative (Salmonella enteritidis) and Gram-positive (Streptococcus pneumoniae) bacteria, nontuberculous mycobacteria (Mycobacterium kansasii), and fungi (Pneumocystis carinii). His 30-year-old mother's medical history, together with residual cutaneous lesions, was highly suggestive of IP without neurologic impairment. In this patient with OL-EDA-ID, we detected the same NF-kappaB essential modulator stop codon hypomorphic mutation identified in the previous patient. The occurrence of the same clinical features in 2 unrelated patients with the same genotype demonstrates that OL-EDA-ID is a genuine clinical syndrome. The clinical and biological descriptions of the proband and his mother further corroborate the relationship between IP and EDA. Both syndromes are allelic and are associated with mutations in NF-kappaB essential modulator, with a genotype-phenotype correlation in hemizygous males. In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females.

Abnormalities, Multiple↗

PubMed2002

[Difficulties in coping with treatment: causes, solutions].

We present a case of parents who had difficulties accepting their child's treatment (HD chemotherapy and stem cell transplantation) and coping with it. The conversation between the paediatrician and the mother revealed that she feared being dispossessed of her maternal role by the nurses, that constraints would interfere with her relationship with her son, that the medical team would make her feel intellectually, culturally and socially inferior, that the conflict the couple was facing would be exacerbated in this setting. Collaboration between the paediatrician, the nursing staff and the psycho-oncologist allowed these conscious and unconscious elements to be understood. Talking, not conflict nor constraints, served to allay their fears, to avoid inappropriate reactions of the medical team, to preserve the therapeutic alliance. The child accepted this trying treatment because he saw that his parents were reassured about its quality and about preserving their sense of identity and their value. Coping difficulties may stem from fear of treatment (too trying physically and psychologically), from its consequences (destabilisation of the family, the individual's social and professional status, his/her sense of identity), from rekindled old problems that were not adequately solved (jealousy, revolt, trauma, bereavement). Dialogue and team work are necessary to solve them.

Attitude of Health Personnel↗