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Biomedical subjects

F Omeñaca

Publications and source records attributed to F Omeñaca.

At least 19 recordsLinked to original sources

[Facial asymmetry with crying: a neurophysiological study and clinical account of this entity].

OBJECTIVE: The objectives of this study were to determine in our newborn population the frequency of facial asymmetry during crying or congenital hypoplasia of the depressor anguli oris muscle (DAOM) without associated major malformations and to evaluate the contribution of electrophysiological studies in the diagnosis of this anomaly. PATIENTS AND METHODS: We performed a prospective study of the living newborns with facial asymmetry which did not need to be admitted to the hospital and that were delivered without the use of forceps in our hospital during 4 consecutive years. Newborn evaluation included physical examination, facial nerve electroneurography and DAOM electromyography. RESULTS: This anomaly without major malformations was present in 0.348/1,000 newborns. Electrophysiological studies demonstrated a normal latency in the facial nerve electroneurography and an absence or reduced number of motor unit potential without signs of denervation in the electromyography. CONCLUSIONS: Diagnosis of this entity is important to exclude facial nerve palsy. Only a physical examination is necessary for a correct diagnosis.

Crying↗

Use of polymerase chain reaction and quantitative antibody tests in children born to human immunodeficiency virus-1-infected mothers.

The diagnosis of human immunodeficiency virus (HIV) infection in children born to HIV-infected mothers is complicated by the presence of passively acquired maternal antibodies, and exclusion of infection in these infants remains problematic. The use of genome detection by polymerase chain reaction (PCR) amplification and the quantification of anti-HIV-1 antibodies were examined as methods for early diagnosis. Blood samples were taken from 84 non-breast-fed infants of HIV-infected mothers in five Italian and Spanish centres, a subgroup of children enrolled in the European Collaborative Study (ECS) for whom clinical and immunological information has been documented from birth. Whole blood was added to glycigel cryopreservative, stored, and tested in the United Kingdom by a nested PCR method. Antibody to HIV-1 was detected and quantified by titration using a gelatin particle agglutination test. PCR sensitivity and specificity were assessed. Twenty-one of the 84 children tested were infected. The estimated PCR sensitivity ranged from 0% (95% CI 0-26%) on day 1, 57% (19-85) on day 7, to 63% (33-92) on day 30. The negative predictive value of PCR ranged from 85% (83-88) on day 0 to 98% (94-100) at 3 months of age. On average, the level of maternal antibody halved every 33 days (31-36.5) in uninfected children. Between 6 and 9 months of age, increases in antibody titres in infected children were not more informative than absolute levels. These findings suggest that antibody measurement may supplement genomic diagnosis and that this collection method provides an alternative to the use of dried blood spots.

Age Factors↗

Fetal anaemia due to pyruvate kinase deficiency.

Pyruvate kinase deficiency was diagnosed in an infant by umbilical vessel sampling at 30 weeks' gestation. Although three previous hydropic siblings had been stillborn or died in the neonatal period, this infant survived with transfusion dependent haemolytic anaemia. Prompt fetal diagnosis of pyruvate kinase deficiency is feasible and allows better management of hydrops fetalis due to this disorder.

Anemia, Hemolytic, Congenital↗

Intrapartum chemoprophylaxis of early-onset group B streptococcal disease.

A randomized study in 121 pregnant women carrier of group B streptococci is undertaken in order to assess the administration of 500 mg of intrapartum ampicillin intravenously to interrupt mother-to-fetus group B streptococcal transmission. In the prophylaxis group there was a significant reduction in neonatal colonization (3.7 vs. 42.9%) and in severe neonatal colonization (0 vs. 25%). There was no case of group B streptococcal sepsis in the prophylaxis group compared to 4.6% (3 cases) in the control group (P greater than 0.05). Clinically infected newborns represented 3.3% in the prophylaxis group vs. 13.8% in the control group. When the organism was isolated during delivery in the vagina or amniotic fluid, prophylaxis was quickly followed by second negative cultures. Ampicillin levels in the amniotic fluid were detected early, and they increased significantly till the third hour. Bactericidal levels in the umbilical cord were detected in 60% of newborns. All these findings support the usefulness of ampicillin prophylaxis in the prevention of early-onset group B streptococcal sepsis.

Amniotic Fluid↗

Polyasplenia, caudal deficiency, and agenesis of the corpus callosum.

Fullana et al. [Am J Med Genet (suppl. 2): 23-29, 1986] reported on 2 sibs with an autosomal recessive syndrome of caudal deficiency and polyasplenia anomalies. We report on a similar patient in which agenesis of the corpus callosum (ACC) was also found. Such an association has not been reported previously. This finding of ACC is to be interpreted as another midline anomaly rather than as a causally independent malformation.

Agenesis of Corpus Callosum↗

Immunological follow-up in children born to HIV-1 infected mothers.

From November 1985 to January 1990 we examined 156 children born to 154 HIV-1 seropositive mothers every 3 months. Eighty-seven infants were over 18 months by January 1990. Six of them met the CDC criteria of HIV-1 infection or died from AIDS; a transmission rate of 7%. Six of the children aged less than 18 months also met the CDC criteria of HIV-1 infection. These 12 infected children were compared with the 81 presumably unifected children. The perinatal findings were similar in both groups. Most of the HIV-1 infected babies showed early abnormalities in humoral and cellular immunity, hypergammaglobulinemia, low percentage of CD4 circulating lymphocytes and increased spontaneous in vitro immunoglobulin production. These changes were persistent in the HIV-1 infected children, but sporadic in those uninfected. Immunological abnormalities were frequently found before clinical symptoms appeared. We conclude that repeated immunological abnormalities in babies born to HIV-1 seropositive mothers are suggestive of HIV-1 infection.

AIDS Serodiagnosis↗

[Spanish Pediatric Association. Madrid. Human immunodeficiency virus infection. Spanish multicenter study].

The results of an epidemiological survey in Spain organized by the "Spanish Pediatric Association" of children born to HIV+ mothers from 1981-1989 are presented. The objectives were, a) to document in the different parts of Spain the number of HIV+ children born to HIV+ mothers, and b) to identify the risk factors involved in the HIV infection. Only in public hospitals, a total of 1938 HIV+ children born to HIV+ mothers were identified. A systematic yearly increase of HIV+ newborns was evident since 1985. Madrid, Catalonia, Valencia, Basq and Andalucia communities incorporated 85% of all cases. 93% of mothers were IVDU and 51% of them were married. Prematurity occurred in 27% of cases and low birth weight in 33% of NB's. The rate of transmission in children over 18 months of age was 25.6% Breast feeding could be a risk factor in the transmission of HIV infection observed in children over 18 months of age. No other maternal risk factors responsible for the HIV transmission were identified. 12% of children died with AIDS. Clinical classification and evolution of HIV infection did not significantly differ from similar studies in other parts of the world. In spite of only public hospitals being involved, Spain has more identified HIV+ children than Italy, Switzerland, Federal Republic of Germany, United Kingdom, Sweden and Belgium combined. The pediatric centres with large number of cases require interdisciplinary pediatric specialized units to cope with the increase demand of medical services, now inadequate and insufficient. To fight drug use and HIV infection in Spain, health education and family support, are indispensable in trying to arrest the continuous spread the HIV infection.

Acquired Immunodeficiency Syndrome↗

Soluble class I histocompatibility antigens (s-HLA) and beta 2-microglobulin at delivery.

In this work we have quantified soluble class I histocompatibility antigens (s-HLA) and beta 2-microglobulin (beta 2 m) in sera of HIV+ or HIV- mothers at delivery and in cord blood sera of their newborn children. The results obtained for beta 2 m show that cord blood sera of newborn children have higher concentrations than their mothers, implying that most of the beta 2 m in the newborn is self-produced as described previously. s-HLA serum concentrations in the newborn children are significantly lower than in their mothers or in age-matched controls. Moreover, HIV+ mothers have significantly higher serum concentrations than HIV- mothers or an age-matched control group. These results suggest that s-HLA does not cross the placental barrier.

Female↗

Natural transmission of group B Streptococcus during delivery.

This is a study of group B Streptococcus during labor of 121 patients in whom group B Streptococcus was isolated in the vagina and/or rectum before delivery. The intrapartum vaginal culture was positive in 55.2% of the antepartum carriers (32/58). When the vaginal culture during delivery was positive, the group B Streptococcus was isolated in the amniotic fluid 2 h after the rupture of membranes in 81% of the cases. The newborns of antepartum carriers, when the labor developed naturally, were colonized by group B Streptococcus in 69.2% of cases when the intrapartum vaginal and/or amniotic fluid cultures were positive (9/13), while only 5.6% of the newborns of antepartum carriers but with negative cultures during delivery were colonized by group B Streptococcus (1/18). The most frequent positive neonatal culture was in the umbilicus (83.3%) followed by the external ear (62.5%).

Amniotic Fluid↗

Group B streptococcus and premature rupture of membranes and preterm delivery.

In a population of 1,050 pregnant women the effect of maternal colonization by group B Streptococcus on premature rupture of membranes (PROM), preterm delivery, and low weight was analyzed. A significant increment was found of the prevalence of PROM for patients colonized in the vagina and/or the rectum (26.4%) versus noncarrier patients (17.8%). In vaginal and/or rectal group B Streptococcus carriers, in whom group B Streptococcus was also isolated from the cervical culture, the rate of PROM was higher (41.7%), while when the cervical culture was negative, the PROM was similar to noncarriers. THere were no significant differences with respect to colonization conditions regarding the incidence of preterm delivery or the different preterm delivery indicators analyzed.

Carrier State↗

Recto-vaginal colonization and urinary tract infection by group B Streptococcus in the pregnant diabetic patient.

The influence of maternal diabetes on Group B Streptococcus (GBS) colonization and GBS urinary infection was investigated. The population under study comprised 1,050 pregnant women (70 of them diabetics, the remaining 980 non-diabetics). A higher prevalence of GBS colonization was found among diabetics (20% versus 10.9%) (p less than 0.05). The rate of colonization was not correlated to the severity of the diabetes condition. Urinary infection was diagnosed on 8.6% of diabetic patients, versus 7.1% of non-diabetics (p greater than 0.05). Urinary infection by GBS occurred with similar frequency in both groups (0% in diabetics and 1% in non-diabetics). The possible etiological implications are commented on, and vaginal and rectal cultures are recommended for GBS screening in the pregnant diabetic patient.

Adult↗

[Triad syndrome in the neonatal period: an anatomoclinical study of 11 cases].

Eleven newborn children with clinical and anatomic characteristics of Prune-Belly syndrome were studied. This establish an approximate incidence of 1:28,000 newborns. All these children died in the first-days of life, nine of them as a result of pulmonary hypoplasia secondary olygohydiamnios. All of them except one had urinary tract dilatation and in four anatomic stenosis of urethra was found as the cause of obstruction. These findings support mechanical theory more than a primary mesodermic disorder as a pathogenic mechanism. All this, together with establishment of an early prenatal diagnosis, opens the possibility of an intrauterine treatment which could free the urinary tract and prevent oligohydramnios and its, sequelae.

Female↗

Complete trisomy 9. Two additional cases.

Two infants with complete trisomy of chromosome 9 are described. One patient, died a few minutes after birth and another survived 24 hours. The main clinical findings in this syndrome are: intrauterine growth retardation, characteristic facial dysmorphism, hypoplastic external genitalia and malformations of heart, brain and skeleton.

Abnormalities, Multiple↗