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Biomedical subjects

J J Cardesa

Publications and source records attributed to J J Cardesa.

11 recordsLinked to original sources
PubMed1996

[Non-ketotic hyperglycinemia. Transient neonatal form].

We report a patient with neonatal epilepsy, with no pattern of burst-suppression, secondary to the transient form of nonketotic hyperglycinemia. Biochemical normalization at two weeks of age was followed by a good clinical evolution and neurological normality at one year of age. The patient showed markedly retarded myelination and microcysts in the frontal white matter, both transitory and with subsequent neuroradiological normalization. Only five patients have been previously described with this clinical variant, there being suspicion of a glycine cleavage system deficiency due to neonatal enzymatic immaturity.

Epilepsy↗
PubMed1987

[Ring chromosome 18 46,XY,r(18)].

Authors report a ring chromosome 18 (18 r) in a four year old boy, with low birth weight, retarded growth and development, microcephaly and plagiocephaly, horizontal nystagmus, ambiguous genitalia, clinodactyly of the fifth finger, distal axial triradius, whorls pattern in 8 fingers in dermatoglyphic. Serum IgA is lower than 3 mg/dl. Parents karyotype is normal.

Child, Preschool↗
PubMed1987

[Biochemical complications of experimental vesico-sigmoidostomy].

Three experimental models of vesico-sigmoidostomy are studied (model-1, end to side V-S plus urethral ligation, model-2, end to end V-S, in "Y of Rous" plus urethral ligation and model-3, vesico-sigmoidoplasty), with aim of reproducing chemical imbalance observed in human subjects with ureterosigmoidostomy. Authors have evaluated clinical biochemical (serum acido-base balance, Cl, Na+, K+, BUN, creatinine, ammonia and albumin), and histologic variables in the first, third and fifth month after operation in 225 rats. Animal of model-1 presented more frequently than model-2 and model-3, alterations (hyperchloraemic acidosis, uraemia, hyperammonemia and hypoalbumin) as well as affectation of upper urinary system for acute or chronic pyelonephritis.

Animals↗
PubMed1980

[Fibrin-fibrinogen degradation products in cerebrospinal fluid of patients with meningococcal infections (author's transl)].

Fibrin degradation products (FDP) D and E, total protein, cell count, and alpha-1-antitrypsin levels have been measured in the cerebrospinal fluid (CSF), and FDP-D and E, and alpha-1-antitrypsin analyzed in serum in 13 cases of meningococcal disease, six with meningococcal septicemia and seven with meningitis. Neisseria meningitidis serotype B was the responsible agent in all cases. The following conclusions are obtained: 1) The presence of FDP in the CSF has no prognostic value, and its detection only in plasma does not exclude a fatal outcome. 2) Statistical analysis of the data suggests that the presence of FDP in the CSF is not the result of passive transfer from plasma but it indicates a meningeal inflammatory reaction. 3) Alpha-1-antitrypsin levels are elevated in meningococcal infections both in plasma and in the CSF, and they significantly correlate with the intensity of the fibrinolytic activity.

Fibrin Fibrinogen Degradation Products↗
PubMedDate not supplied

[Reversible neuropsychological deterioration associated with valproate].

Valproate (VPA) is indicated for treatment of febrile convulsions (FC) and very infrequently is associated with impairment of cognitive functions. We present a 8 years old girl treated with VPA for FC who manifest a dramatic behavioral and intellectual disorder confirmed by neuropsychological tests. Three weeks after a reduction of VPA dosis we observed a spectacular clinical improvement. Then, medication was discontinued with normalization of the neuropsychological items, till now, more than one year later. At all time plasmatics levels of VPA were in range and we never observed direct toxicity by the drug. This is an exceptional picture, and for our knowledge never has been reported during treatment of FC. We think that is important to inform of drug-induced abnormalities like this for avoid unnecessary exams to search for neurodegenerative disorders.

Anticonvulsants↗