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J J Cardesa García

Publications and source records attributed to J J Cardesa García.

At least 19 recordsLinked to original sources
PubMed2004

[De novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). Report of a new case].

We report a case of de novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). The patient showed dysmorphic features (flat face, short and horizontal palpebral fissures, depressed and broad nasal bridge, wide nose with hypoplastic alae nasae, short and flat philtrum, high arched palate, micrognathia, anomalies of the ears), redundant adipose panniculus of the neck, proximal shortening of the limbs, flexion contractures, long and distally widened fingers, bilateral clubfoot, single umbilical artery, hypoplasia of lung and pulmonary arteries, atrial septal defect and patent ductus arteriosus. She died 23 hours after birth from respiratory failure. Chromosome analysis with high resolution GTG bands showed 46,XX,1p1, which was interpreted as a partial duplication of the distal long arm of chromosome 5 (q31--> qter). Fluorescence in situ hybridization analyses with whole chromosome painting technique for chromosome 5 proved that this extra region belonged to chromosome 5. Our case is the first to have a de novo partial duplication of this chromosome segment.

Chromosomes, Human, Pair 5↗
PubMed1993

[Controlled clinical assay in Clonidine, arginine aspartate, alpha-ketoglutarate of Ornithine and Ciproheptadine as growth stimulants in children with short stature].

Eighty-one healthy prepubertal children of short stature, between two and twelve years of age, were divided into four homogeneous groups. Each group was treated with a placebo for one year and for a second year with one of the following drugs (double blind): clonidine (CI), arginine asprate (AA), ornithine alphaketoglutare (OKG), or cyproheptadine (Cp). CI and OKG did not better the standard deviation of height. AA and Cp did, but to no greater extent than the placebo. The growth rate did not change in any group. The ratio of bone age/chronological age was significantly higher at the end of the OKG year than at the end of the year with placebo, a difference that was not found in any other group. The prognosis of adult height (TW2) did not change in any group. The standard deviation of weight increased in all groups, both with the placebo and the various drugs, without significant differences between the groups. The CI caused frequent clinical side effects, including a reversible increase in transaminases in one child. The Cp stimulated hunger. The AA and OKG did not produce side-effects and the placebo increased appetite in 11% of the children. Somatomedin C was significantly higher after one year with Cp than after one year with the placebo, significantly higher after the placebo than after CI and AA and there was no difference between the treatment with the placebo and OKG. Growth hormone values in a 24 hour urine sample were so scattered that we do not consider them helpful.(ABSTRACT TRUNCATED AT 250 WORDS)

Arginine↗
PubMed1991

[Diagnostic significance of systematic neonatal urinary echography. Therapeutic implications].

A total of 9,959 ultrasonography studies of the upper excretory urinary system during the first three days of life of all the children born in this centre were carried out over a period of three years. Sonographic abnormalities were found in 125 patients (1.26 per 100) consisting of: Prominent pelvis in 35, pyelic ectasia in 45, hydronephrosis in 16, ureterohydronephrosis in seven, renal agenesis in 14, multicystic kidney in two, renal ectopia en two, other anomalies in four. There had been prenatal sonographic diagnosis of the urinary tract abnormality in 24 patients, all with pyelic ectasia or hydronephrosis. The sonography of the patients with prominent pelvis normalized before three months of age. Intravenous urography was performed on most of the remaining 90 patients, confirming the diagnosis in the greater part, and serial voiding cystourethrography which detected vesicoureteric reflux in 21 of 77 patients. The definitive diagnosis was arrived at in all patients after carrying out the sonography and the uroradiological test. This made prophylactic antibiotic treatment possible in many of the cases and surgical correction of the anomaly in 30, performing pyeloureteroplasty in 11, neo-ureterocystostomy in 10, nephrectomy in five, heminephroureterectomy in three and derivation to the skin in one. Twenty of these patients were operated before three months of age. The number of uropathies operated at early ages at this centre has risen remarkably since introduction of systematic neonatal urinary sonography.

Age Factors↗
PubMed1989

[Unilateral testicular torsion. Effect on the contralateral testis].

The unilateral testicular torsion produce alteration of contralateral testes, with a frequence of sterility and alteration sperm bigger than normal population. The great differences report for various authors in the works make necessary to know better the pathogenesis of the testicular torsion about the fertility. With the aim to study this aspect, we carry out this experimental work in that animals with testicular torsion, although with individual results very different, have, again the animals with sham intervention, less number of sperm (P less than 0.001), with less time of survivorship (P less than 0.001), bigger percentage of precocious agglutination and abnormal shape (P less than 0.001) and bigger quantity of immobile sperm. These alteration as adult animals, but they are bigger in the late.

Animals↗