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Biomedical subjects

J Rico

Publications and source records attributed to J Rico.

At least 19 recordsLinked to original sources
PubMed2001

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.

Epidermolysis bullosa with pyloric atresia (EB-PA: OMIM 226730), also known as Carmi syndrome, is a rare autosomal recessive genodermatosis that manifests with neonatal mucocutaneous fragility associated with congenital pyloric atresia. The disease is frequently lethal within the first year, but nonlethal cases have been reported. Mutations in the genes encoding subunit polypeptides of the alpha 6 beta 4 integrin (ITGA6 and ITGB4) have been demonstrated in EB-PA patients. To extend the repertoire of mutations and to identify genotype-phenotype correlations, we examined seven new EB-PA families, four with lethal and three with nonlethal disease variants. DNA from patients was screened for mutations using heteroduplex analysis followed by nucleotide sequencing of PCR products spanning all beta 4 integrin-coding sequences. Mutation analysis disclosed 12 distinct mutations, 11 of them novel. Four mutations predicted a premature termination codon as a result of nonsense mutations or small out-of-frame insertions or deletions, whereas seven were missense mutations. This brings the total number of distinct ITGB4 mutations to 33. The mutation database indicates that premature termination codons are associated predominantly with the lethal EB-PA variants, whereas missense mutations are more prevalent in nonlethal forms. However, the consequences of the missense mutations are position dependent, and substitutions of highly conserved amino acids may have lethal consequences. In general, indirect immunofluorescence studies of affected skin revealed negative staining for beta 4 integrin in lethal cases and positive, but attenuated, staining in nonlethal cases and correlated with clinical phenotype. The data on specific mutations in EB-PA patients allows prenatal testing and preimplantation genetic diagnosis in families at risk.

Amino Acid Sequence↗
PubMed1996

Oral sweet solution reduces pain-related behaviour in preterm infants.

To evaluate the effectiveness of oral sucrose in the prevention of pain-induced crying in preterm infants, a sample of 28 healthy neonates (15M, 13F; gestational age at procedure less than 37 weeks) who were having routine blood drawn by arm venipuncture was studied. Infants were randomly allocated to receive by mouth, using a syringe, 2 ml of one of three solutions: spring water (group W) and sucrose 12 and 24% w/v (groups S12 and S24, respectively), all in water vehicle. After 2 min, while awake, arm venipuncture was performed and duration of crying was measured. The time spent crying was reduced in the group treated with the sweetest solution (S24, n = 8, mean = 19.1 s). No difference was observed between the S12 group (n = 8, mean = 63.1 s) and W group (n = 12, mean = 72.9 s). Physiological measurements were recorded at different time points to evaluate excessive basal and procedural distress.

Analgesia↗
PubMed1995

Percutaneous balloon valvuloplasty for concurrent mitral, aortic and tricuspid rheumatic stenosis.

Percutaneous balloon valvuloplasty has been used with good results to treat rheumatic mitral stenosis. However, its use in degenerative aortic stenosis has shown many limitations. There is little information about balloon valvuloplasty in tricuspid and aortic rheumatic stenosis. This article describes two patients with combined rheumatic mitral, aortic and tricuspid stenosis in which triple percutaneous valvuloplasty was performed in a single procedure.

Adult↗
PubMed1995

[The return to work after coronary revascularization].

INTRODUCTION: Work resumption after a therapeutical intervention has been considered as a sensitive indicator of its success. There are some reports analyzing working status after coronary artery revascularization in western countries. However, to our knowledge, similar studies have not been published in Spain. PATIENTS AND METHODS: We studied 210 patients after coronary artery revascularization surgery or percutaneous transluminal coronary angioplasty. Exclusion criteria were age of 65 or more years and female sex gender (n = 64). RESULTS: Working patient rate before and after coronary revascularization was respectively 63.2% and 28.9% for surgery, and 57.1% and 41.4% for percutaneous angioplasty (p = 0.11). None of the former inactive patients, with the exception of one in the surgery group, went back to work after the revascularization procedure. Asymptomatic patients after percutaneous angioplasty had a higher postprocedure working rate than symptomatic ones (58.1% vs 11.1%, p < 0.0001). Patients in the surgery group did not show this relation (30% vs 25%, p = 0.69). CONCLUSIONS: Surprisingly, coronary artery revascularization interventions, mainly coronary surgery, seems to behave in our environment as important determinants of working cessation.

Angioplasty, Balloon, Coronary↗
PubMed1990

[Atrioventricular block at the nodal level and block of an accessory pathway during percutaneous mitral valvuloplasty].

We describe the simultaneous occurrence of a temporal complete atrioventricular block and a persistent disappearance of preexcitation, in a patient with rheumatic mitral stenosis and a ventricular preexcitation, after an effective percutaneous mitral valvuloplasty. These conduction disturbances were attributed to atrioventricular node and paraseptal atrioventricular pathway trauma, due to transseptal manipulation during the mitral valvuloplasty.

Adult↗
PubMed1989

[Combination of quinidine and verapamil in auricular fibrillation].

The efficacy of the association of verapamil plus quinidine in 70 patients with atrial fibrillation, 64 of them after having cardiac surgery, was assessed. Oral dosage ranged from 825 mg to 1,100 mg for quinidine polygalacturonate and 240 mg to 320 mg for verapamil. All patients but two reached a good control of heart rate (mean heart rate less than 110 beats/min) while arrhythmia persisted. Sixty patients (85.7%) reverted to normal sinus rhythm in a period of 2.4 +/- 1.5 days (mean +/- SD). According to the atrial fibrillation duration three subsets of patients with different conversion rates to sinus rhythm were established (p less than 0.01): group A (lasting from 1 day to 3 months) 31/39 (96%); group B (lasting 3 to 6 months) 18/21 (85.7%) and group C (lasting 6 to 12 months) 5/10 (50%) (p less than 0.01). Plasma quinidine levels were maintained at either near to or therapeutic range (2.6 +/- 0.94 micrograms/ml). Adverse effects comprised one ventricular arrhythmia-induced syncope (quinidine syncope) and two cases of systemic hypotension. Quinidine-verapamil association is a good alternative in the treatment of atrial fibrillation, particularly in those of recent onset, according to the high rates of conversion to normal sinus rhythm, affording control of heart rate while atrial fibrillation persists. Adverse reactions did not differ in severity from those observed with quinidine monotherapy.

Administration, Oral↗