Biomedical subjects

M Iriondo

Publications and source records attributed to M Iriondo.

25 records · Page 2Linked to original sources

PubMed1987

Unilateral atrophoderma of Pasini and Pierini.

Atrophoderma of Pasini and Pierini usually appears as isolated, round to oval depressed areas of otherwise normal-appearing skin. The clinical appearance has been likened to "footprints in the snow" or depressions with "cliff drop" borders. The condition is of unknown cause and most commonly occurs on the back, but it is occasionally seen elsewhere on the body. A literature search revealed only one previous report of unilateral atrophoderma of Pasini and Pierini.

Adult↗

PubMedDate not supplied

Genetic polymorphisms of the Basques from Gipuzkoa: genetic heterogeneity of the Basque population.

A random sample of 586 Basque individuals from the province of Gipuzkoa was studied for 16 genetic systems: A1A2B0, Rh, MNSs, P, Lewis, Duffy, Kell, GC, TF, AAT, ACP, AK, ADA, ESD, HP and PGM1. The results of this study indicate that the Basque population of Gipuzkoa presents certain differential values with respect to other Basque series, such as maximum values for RH*cde, AK*2 and PGM1*2+ and minimum for PGM1*1-, while the remaining alleles are located within the range of values found in the Basque population to date. It is suggested that there is intraprovincial heterogeneity, as described for Bizkaia by Aguirre et al. in 1991, and the existence of heterogeneity within the Basque population on an inter-provincial level, backing up previous studies in this respect (by Aguirre et al. in 1989 and Manzano et al. 1993).

Blood Group Antigens↗

PubMedDate not supplied

Data on six short-tandem repeat polymorphisms in an autochthonous Basque population.

Population data studies for six short-tandem repeat loci (HUMCSF1P0, HUMTPOX, HUMTH01, HUMHPRTB, HUMFES/FPS, and HUMvWF) were carried out on a sample of 326 autochthonous Basques. Comparing with other European samples, we found the highest frequencies known so far for allele 11 of the HUMCSF1P0 locus (0.380), allele 10 of the HUMFES/FPS locus (0.384), and allele 17 of the HUMvWF locus (0.329). On the other hand, we found the lowest frequencies recorded in Europe for allele 12 of the HUMCSF1P0 locus (0.291), allele 7 of the HUMTH01 locus (0.128), and allele 11 of the HUMFES/FPS system (0.317). These results support the hypothesis that the Basque population is a remnant of early European settlers.

Ethnicity↗

PubMedDate not supplied

[Perinatal intracranial hemorrhage due to immune thrombocytopenia].

INTRODUCTION: Immune neonatal thrombocytopenia is caused by maternal antibodies (IgG) passing across the placenta, with subsequent destruction of foetal platelets. There are two forms, the iso-aloimmune forms, with an incidence of intracranial hemorrhage (ICH) in the neonatal period of 10-20%, and the autoimmune form with an incidence of only 1%. OBJECTIVE: To review the patients with this condition in a neonatal unit. CLINICAL CASES: During the past 12 years, three patients with ICH due to immune thrombocytopenia were attended in the neonatal unit. Three newborn babies had ICH (two intrauterine, at 30 and 33 weeks of gestation, and one postnatal) secondary to immune thrombocytopenia (two aloimmune and one autoimmune). Two births were by caesarean section and one was vaginal. All three had thrombocytopenia at birth (12,000; 23,000 and 56,000 platelets/mm3). Immunological study of the platelets from the patients with aloimmune thrombocytopenia showed the absence of HPA-1a in their mothers. The patients were treated with gammaglobulins and platelets. Intracranial hemorrhage was confirmed on neuroimaging in all cases. A porencephalic cyst was seen to have formed in two cases. The clinical course was satisfactory in two patients. However, the third patient had severe motor impairment and died 9 months later. In all three patients the PEV were altered and two had reduced visual acuity. CONCLUSIONS: 1. Perinatal ICH due to immune thrombocytopenia is uncommon, but potentially serious. 2. We suggest that cranial ecographic studies should be done in all newborn babies with immune thrombocytopenia even when no neurological disorder is seen. 3. Early diagnosis and suitable treatment may help to reduce the neurological sequelae. 4. The neurological complications are due to intraparenchymatous hemorrhage, and visual sequelae are frequent.

Child, Preschool↗

PubMedDate not supplied

Clinical and immunological spectrum of partial DiGeorge syndrome.

We present four cases of DiGeorge syndrome diagnosed at our center. Onset occurred during the neonatal period and was associated with severe congenital heart disease. In case 1, the patient had heart disease and absence of thymus. Total T-lymphocytes were 34%; total T4-lymphocytes were 27%. Stimulation test with phytohemagglutinin (PHA), concanavalin A (conA) and pokeweed mitogen were negative. Microdeletion was found in the chromosome 22q11 region. The second case involved heart disease, microstomia, round and rotated ears and branchial cyst. Total T-lymphocytes were 38% and total T4-lymphocytes 27%. Thymus was absent. Microdeletion in the chromosome 22q11 region. Case 3 showed heart disease, renal malformation, absence of thymus and parathyroid gland. The patient died 5 days postsurgery. Microdeletion was seen at chromosome 22q11. In the fourth case there was heart disease, microretrognathia, hypertelorism, short neck, absence of thymus and parathyroid glands. Total T-lymphocytes were 22%, total T4-lymphocytes 15%, and total T lymphocytes for pokeweed mitogen were negative. Microdeletion was found at chromosome 22q11. At the age of 13 days the patient died. The cases were recorded during a 2-year period, between 1997 and 1998. The prevalence of DiGeorge syndrome in the number of admissions for congenital heart disease among the neonates at our hospital was 3.14%. Presentation in the form of repeated infections is rare, since most cases of DiGeorge syndrome are partial, and functional cellular immunity is preserved.

Adult↗

PubMedDate not supplied

[Cerebellar hemorrhage in full-term newborn babies].

INTRODUCTION: Cerebellar hemorrhage (CH) has been observed in 5 to 10% of the autopsies done on newborn babies. Since neuroimaging techniques have become available it is easier to diagnose the condition. In this paper we report on a series of cases of CH in full-term newborn babies. OBJECTIVES: To determine the number of patients with CH diagnosed by neuroimaging, make a descriptive study and analyze their progress. RESULTS: Between 1984 and 1999 six patients had CH, three boys and three girls, five born after their mother's first pregnancy. Four were vaginal births; in two forceps were used and in one a vacuum extractor; two were born by cesarean section. Four showed symptoms within the first 48 hours of life, one on the fourth day and one on the twenty fifth day. The latter had hemorrhagic disease of the newborn. In five patients transfontanellar ultrasound was useful in diagnosis. In all six cases computerized axial tomography scan confirmed the diagnosis. Cerebral magnetic resonance (MR) was done in three cases. No arteriovenous malformations were shown on angio-MR. Two patients had hydrocephalus and both were treated by ventriculo-peritoneal shunts. Three cases had transient ventricular dilatation which improved with medical treatment. The patient with hemorrhagic disease of the newborn had alterations in blood clotting. In three patients metabolic studies were normal. Five patients were treated conservatively and only one neurosurgically. Subsequent evolution was characterized by the presence of psychomotor retardation with mild cerebellar signs. At school age, only observed in two cases, there were learning difficulties with a low intellectual coefficient and problems with reading and writing. In one case there was epilepsy, controlled by use of two antiepileptic drugs. CONCLUSIONS: Half the cases of CH transfontanellar ultrasound is useful in diagnosis. Most patients were managed conservatively. During the clinical course there were psychomotor retardation, cerebellar signs, cognitive deficits with learning problems and epilepsy.

Brain Damage, Chronic↗

PubMedDate not supplied

[Neurological development of very low birth weight infants (<1,501 gr) at two ears of age].

The aim of this study is to analyse different aspects of the psychomotor development, during the first two years of the life, of 56 very low birth weight newborns (less of 1.501 g) that had completed a follow-up program. Of the results we have got, the most important are the following: 4 observations (7%) presented severe sequelae motor disability in a tetraparesis with sensorial defects in 3 of them and behavior disturbance (psychosis) with visual defect in the rest. Three observations (5.3%) presented moderate sequelae: all of them with motor disability (hemi- or tetraparesis) and cognitive deficiency. Me have to point out that in the two groups described above, the pathological signs were detected before the age of 6 months. Nine observations (16%) presented mild sequelae dominating language delayed (7% of whole sample) and transient abnormalities in 7 of them (12.5%). In the subgroup of small for gestational age newborns (21 observations), 28.5% presented mild sequelae, 14% transient abnormalities and no one presented severe or moderate sequelae. Although a long term follow-up is necessary in order to detect learning, cognitive, or behavior disturbances, that can just become evident later, we think that the attention of the deviations of the normality during the two first years of the life, would warn about possible future disturbances.

Child Behavior Disorders↗