Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.

The discovery of fetal DNA in maternal plasma from early pregnancies has led to new opportunities for clinical application. In the last few years there have been numerous reported applications, mainly fetal gender and RhD genotyping. The prenatal diagnosis of some inherited genetic diseases such as Huntington disease is also very frequently required in the prenatal diagnosis routine. We have successfully diagnosed, with a non-invasive procedure, an unaffected HD fetus at the 13th week of gestation using fetal DNA from maternal plasma and the quantitative fluorescent PCR method, which is one of the most sensitive ways to detect fetal DNA in maternal plasma at such an early time of gestation.

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma.

OBJECTIVES: Maternal plasma and serum are being used to detect fetal DNA by PCR in order to determine certain conditions such as fetal gender and RhD without invasive procedures. Because of the presence of maternal DNA in plasma, these approaches are limited to paternally inherited disorders or those de novo present in the fetus. We have assessed the possibility of performing the detection of a single-gene disorder such as a fetal paternally inherited Cystic Fibrosis mutation (Q890X) in maternal plasma. METHODS: The analysis was performed at 13 weeks of gestation using DNA extracted from maternal plasma. We used a PCR amplification of the Q890X mutation and a posterior restriction analysis of the PCR product. RESULTS: We were able to detect the presence of the mutation and thus the fetal condition of being a carrier of the paternal mutation. CONCLUSIONS: We have made evident the possibility of detecting an inherited paternal mutation in a non-invasive way at the 13t(hr) weeks of pregnancy. This methodology could be very useful in cases of paternally inherited dominant disorders. The technical improvements in fetal DNA detection and analysis might lead to the development of new applications in the non-invasive prenatal diagnosis field.

Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations.

OBJECTIVE: To analyse the discrepancy between the karyotype in direct preparations of chorionic villus sampling (CVS) and the fetal karyotype and its possible fetal phenotypic repercussion. METHODS: The karyotype was obtained from direct and cultured preparations of CVS. FISH was performed in direct CVS preparations and in four different areas of term placenta. RESULTS: Karyotype and FISH analysis in CVS revealed a 46,XX/47,XX,+i(11q) cell line. Cultured CVS preparations showed a 46,XX karyotype. Cytogenetic studies in term placenta did not reveal the abnormal cell line. Molecular studies did not detect uniparental disomy for chromosome 11 in the fetus. CONCLUSION: The fetus, at birth, had no phenotypic abnormalities. IUGR was not present during gestation, in accordance with the low proportion of aneuploid cells in term placenta, and UPD for chromosome 11 was not observed.

[Depression 1. Clinical aspects and nurses' evaluation]. / Depresión (I). Clínica y valoración de enfermería.

OBJECTIVES: To review the recent advances made in evaluation and treatment procedures in cases of depression and their repercussions in nursing care. The growing efficiency of antidepressive medication, together with the importance given to community awareness of the upheavals which affect mental health, have modified the role nursing plays in evaluation of patients suffering depressive episodes. In this changing context, the therapeutic relationship between nurse and patient has developed into one of the pillars which sustain a correct and long-lasting stability in the depressed patient's state of mind. SOURCES: Primary source information on treatment methods by nurses handling depressed patients published from 1995 through 1999 and identified in the Medline data base. In a second article, these same authors will evaluate the intervention and the follow-up procedures carried out by nurses caring for patients suffering from depression.

[Depression. 2. Treatment and nursing interventions]. / Depresión y (II). Tratamiento e intervenciones de enfermería.

OBJECTIVES: To review the recent advances in the evaluation and treatment procedures for depressive episodes and their repercussions on nursing care. The growing effectiveness of anti-depressive medication, together with the importance provided by community understanding of mental health disorders, have modified the role nurses play in evaluation (Part One in Revista ROL de Enfermeria 23(4):265-270), intervention and follow up (Part Two) for patients suffering from depressive episodes. In this context of change, the therapeutic relationship between nurse and patient has developed into one of the pillars which maintains a correct and long-lasting stabilization of a depressed patient's state of mind. SOURCES: Cases identified by Medline database referring to nursing treatment of patients suffering from depression, published from 1995 until 1999.

Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.

We report on a girl with minor anomalies and developmental delay carrying an apparently balanced paracentric inversion of chromosome 6q (q22qter). Fluorescent in situ hybridization analysis demonstrated a deletion of the subtelomeric region of 6q. This illustrates the use of specific subtelomeric fluorescent in situ hybridization probes to detect cryptic deletions as an important cause of mental retardation in seemingly balanced chromosome rearrangements.

Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.

A Spanish family affected with autosomal dominant retinitis pigmentosa (ADRP) with a diffuse phenotype showed a mutation in the rhodopsin gene. The mutation was the transition T-->C in codon 186, which has been reported once before in an American patient (Dryja et al., Proc Natl Acad Sci USA 1991;88:9370-9374). This change replaces a serine by a proline in the second intradiscal loop of the protein, generating a molecule that is probably folding- and transport-defective.

[MEN I (multiple endocrine neoplasia): patient screening and new tumor markers]. / MEN I: Screening de pacientes y nuevos marcadores tumorales.

Multiple endocrine neoplasia type I (men I) associates hyperparathyroidism with pancreatic tumors. The evaluation included the patient and its family, periodically. A good patient medical history, biochemical blood tests, carried out regularly and in an organised fashion, brings to the fore the diagnosis without difficulties. Tumoral markers are now being considered an important test for diagnosis and follow-up (gastrin, pancreatic peptid, prolactin...). The newest chromogranin is a polypeptidic group which increases in the blood of patients with endocrine neoplasias (including hyperparathyroidism and tumors of pancreatic islet cells). The specific neural enolase is increase in pancreatic islet cells tumor. The evaluation of S-100 substance, 7-B2 protein, neurotensin, alpha sub-unit of chorionic gonadothrophin and other markers will soon be of help in the diagnosis of men I.