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Biomedical subjects

P Cuadrado

Publications and source records attributed to P Cuadrado.

5 recordsLinked to original sources

Regiospecific and stereoselective synthesis of functionalized and differently metalated alkenes by silyl- or stannylcupration of metalated acetylenes.

Differently metalated vinylcuprate intermediates resulting from silyl- or stannylcupration of silyl- and tin-containing acetylenes reacted with a range of electrophiles, including chlorosilanes and chlorostannanes, affording regio- and stereodefined differently metalated vic and gem silyl- and tin-trisubstituted alkenes. Some of these functionalized polymetalated olefins are interesting synthons in organic chemistry.

Journal Article↗

[Caudal regression syndrome].

INTRODUCTION: The regression caudal syndrome includes a spectrum of malformations which vary from the symptomless coccygeal agenesis until thoracic vertebrae and sacrococcygeal agenesis with severe neurological deficit; it is associated sometimes with malformations in other organs and systems. We present a case of partial agenesis of sacro and coccix with neuromuscular, sphincter and orthopedist alterations. CLINICAL CASE: A 4-year-old patient consults because of walk alterations, with daytime and nocturnal enuresis and urinary incontinence, constipation/encopresis and rectal prolapse. Familiar and personnel precedents are uninteresting. She began to walk at normal age, referring only rectal prolapse with constipation from nursing and urinary tract infections and encopresis when she was 3 years old, with normal complementary explorations (digestive and nephrourologyc). She presents in lumbosacral X-rays four lumbar vertebrae, a dysplasic sacro and absence of coccix. Hypoplasy of sacro with bilateral stenosis of the pelvis and coxa vara in both femurs are seen in the lumbar CT. In RMI is observed agenesis of sacro and coccix vertebrae. CONCLUSIONS: There are a wide variety of sacrococcygeal agenesis, which are classified by Renshaw and modified by Pang. As etiologics factors we find the gestational diabetes, in addition to genetic factors. The clinic exploration guides us toward a flaccid paraparesia/areflexia, with orthopaedist alterations, sometimes of artrogripotyc type. With image techniques (X-rays, CT, MRI) we can accomplish the diagnosis and we can discard or demonstrate associated medullary anomalies. We concluded that in all patient with alterations of walk and/or lack of sphincters control we should explore the lumbosacral region searching for medulodiysplasic or vertebral alterations.

Abnormalities, Multiple↗

Autoimmune hepatitis type 2 and hepatitis C virus infection: study of HLA antigens.

BACKGROUND/AIMS: Markers for hepatitis C virus are often detectable in patients suffering chronic hepatitis with liver-kidney microsomal type 1 antibodies. Several authors have suggested that two subsets of those patients can be defined: a) hepatitis C virus negative and b) hepatitis C virus positive. The aim of this work was to further analyze the possible genetic association, HLA class I and II, in these two groups of patients. METHODS: HLA was analyzed in 49 patients. Class I was studied using a standard lymphocytotoxicity test and in class II a reverse hybridization-based test for DRB1 typing and PCR-SSO for DQB1 typing were used. Sixty healthy Spanish subjects and 39 chronic hepatitis C subjects without anti-LKM1 antibodies were used as control groups for the "a" and "b" subsets, respectively. RESULTS: No significant association was found with class I specificities in either group. DQB1 typing showed a very significant increase of DQ2 in the "a" group (93.3% vs. 48%; RR = 15; Pc = 0.0025), and DRB1 typing from the "b" group revealed a high association with DR7 (82.3% vs. 43.6%; RR = 6; Pc = 0.0086). CONCLUSIONS: Our studies revealed a strong association with DQ2 for the "a" group and for the first time an extremely high association with DR7 antigen for the "b" subset. Hence it is possible to establish a different genetic profile in these two patient groups.

Adolescent↗

[Neonatal hyperammonemia due to ornithine transcarbamylase deficiency (author's transl)].

The clinical and biochemical findings in a patient with the inherited disease so called hyperammonemia type II are presented. The patient was a male who had the first abnormal symptoms of tremors and continuous crying at 35 hours of age and exhibited a rapid clinical course dying 62 hours after birth. Rejection of food, respiratory problems, hypotonia and tonic-clonic convulsions were other outstanding clinical symptoms observed. Withdrawal of the feedings and initiation of a perfusion did not improve the clinical picture. Biochemical studies in samples of blood, urine and CSF revealed the presence of high concentrations of ammonia, alanine, glutamine and orotic acid. Final diagnosis was achieved when post mortem liver ornithine transcarbamylase activity was found to be lower than 6% with respect to that of adequate controls. Carbamyl phosphate synthetase, another urea cycle enzyme measured, was within normal limits of activity.

Amino Acid Metabolism, Inborn Errors↗