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Biomedical subjects

M del Campo

Publications and source records attributed to M del Campo.

7 recordsLinked to original sources
PubMed2005

[Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder].

INTRODUCTION AND DEVELOPMENT: Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are two neuropsychiatric disorders beginning in childhood that present a high degree of familial aggregation. ASD is characterised by social interaction and communication disorders, whereas patients with ADHD display persistent inattention and/or hyperactive-impulsive behaviour. With the exception of a few cases of autism in which cytogenetic anomalies or mutations have been reported in specific genes, the aetiology of these diseases remains unknown. This is a group of multifactorial diseases with several genes having a lesser effect and there is also an environmental component. Genetic linkage studies have pointed to about 20 chromosomal regions that could well contain genes that grant susceptibility to autism, to ADHD or to both disorders. The challenge to researchers lies in the clinical characterisation, recruitment of patients with ASD and ADHD, gene dosage quantification studies, comparative genomic methylation and hybridisation in order to identify chromosomal rearrangements in patients with autism and severe mental retardation. CONCLUSIONS: Genotyping large SNP-type collections that are potentially functional in genes that are candidates for these disorders, based on pharmacological, biochemical and neuropathological data together with that coming from animal models and linkage studies in a wide collection of samples from patients and controls, will enable us to identify the genetic components of these pathologies and to define their biological foundations.

Attention Deficit Disorder with Hyperactivity↗
PubMed1999

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.

We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and cardiomyopathy. All manifested postnatal growth retardation, microcephaly, and profound developmental delay. Additional central nervous system anomalies present in at least one patient included hypoplasia of the cerebellar vermis, white matter neuronal heterotopia, or bilateral schizencephaly. Repeated viral, bacterial, and fungal infections were consistent with a primary immunodeficiency. However, immunological studies showed variable, nonspecific findings. Cardiomyopathy with progressive heart failure or infection led to death before age 2 years in three of the patients. This syndrome was first described by Vici et al. [1988: Am. J. Med. Genet. 29:1-8]. The four patients reported herein confirm this unique disorder. Affected sibs of both sexes born to unaffected parents provide evidence for autosomal recessive inheritance.

Adult↗
PubMed1989

Differentiating multiple personality disorder and complex partial seizures.

A number of reports have suggested that some cases of multiple personality disorder might be due to temporal lobe epileptic discharges. We have administered a structured interview, the Dissociative Disorders Interview Schedule, to 20 subjects with multiple personality disorder, 20 with complex partial seizures, and 28 neurologic controls. Subjects also completed the Dissociative Experiences Scale. Results show that multiple personality can be differentiated from complex partial seizures on a large number of items. The seizure patients did not differ from controls. The data indicate that the phenomenologies of these two disorders are distinct, and, therefore, there is little reason to assume a common etiology.

Adult↗
PubMedDate not supplied

[The effect of nutrition on bone marrow transplantation].

Malnutrition alone may provoke considerable immune alterations, mainly in the immunocellular function, and in particular in the T lymphocyte and macrophage-monocytic function. This gives rise to an increase in proneness to infections, which in patients subjected to bone marrow transplants, will be increased by the intense neutropenia suffered by them. This study shows the greater incidence of infection among badly nourished patients compared to nourished patients. It was also observed that short bouts of high temperature mainly occurred in a subgroup of patients with an acceptable nutritional level, which in our opinion was the cause for none of them developing the infectious illness. Finally, one of the germs most often found in these patients is Staphylococcus epidermis, and the most common method of entry is through the catheters used in the administration of medicines and artificial nutrition. Emphasis is placed on the role played by nursing in preventing this type of infection.

Adolescent↗