PubMed Health⌕ Search

Biomedical subjects

L Cifuentes

Publications and source records attributed to L Cifuentes.

At least 37 records · Page 2Linked to original sources
PubMed1999

Vernacularization as an intellectual and social bridge. The Catalan translations of Teodorico's Chirurgia and of Arnau de Vilanova's Regimen Sanitatis.

This study analyzes the dissemination and readership of two medieval medical works in Catalan. Combining the use of diverse sources such as the manuscripts themselves, post-mortem inventories, and the prologues written by the translators, the study shows how the diffusion of these works exemplifies the two main audiences to which vernacular texts were addressed. These were, on the one hand, literate but not Latinate surgeons and other practitioners interested in the new medicine emanating from the emerging universities; and on the other, nobles and burghers interested in issues of health and disease and in natural philosophy in general. The framework for the study is the general process of consolidation of the new medical system which developed in late medieval Latin Europe.

General Surgery↗
PubMed1999

Paternity analysis when the putative father is missing: first case in Chile.

Genetic marker analysis is a powerful tool for solving paternity-related problems when the putative father is missing. This report describes the first time this approach was employed in Chile to solve such a problem. In the case presented, the alleged father was missing as a result of the political detentions that took place in Chile during 1973. It was not possible to obtain any biological sample from him because he was missing. Thus, the case was resolved by means of genetic marker analysis of the alleged father's close relatives.

Birth Certificates↗
PubMed1999

[Congenital malformations in twins].

BACKGROUND: A higher prevalence of congenital malformations among twins than among single has been reported in the literature. AIM: To study the incidence of congenital malformations in twins in the maternity hospital of the University of Chile in the period 1983-1997. MATERIAL AND METHODS: As part of the Latin American Collaborative Study of Congenital Malformations, every newborn in the maternity hospital was examined by a neonatologist and congenital malformations were recorded in a special file. RESULTS: In the study period there were 48.663 deliveries of single pregnancies and 448 deliveries of twin pregnancies, giving birth to 886 twins borns alive and 17 stillbirths (1.9% mortality). Of these, there were 423 twins, 17 triplets, a sextuple delivery and two siamese. Seven point one percent of twins born alive and 6.5% of single newborns had a congenital malformation. The prevalence of malformations in twins and single stillbirths was 35.2 and 17.2% respectively (p < 0.04). In four pairs and siamese newborns, malformations typical of monozygotic twins were present, such as an acardiac fetus with Trap sequence, a papyraceous fetus and two with hydroanencephaly. Twelve twins had malformations attributable to uterine compression. CONCLUSIONS: This study did not find a higher frequency of malformations comparing twins with single babies born alive, but in stillbirths there was a significant difference between single and twin stillbirths (7.1% versus 35.2%, respectively, p < 0.05).

Chile↗
PubMed1999

[Esophageal atresia and associated malformations].

BACKGROUND: Survival of newborns with esophageal atresia and tracheoesophageal fistula has increased in the last years. AIM: To assess the prevalence of esophageal atresia and describe associated malformations in Chilean newborns. MATERIAL AND METHODS: All births occurring between January 1983 and June 1998 were studied. All malformed children were registered and the next non malformed born child was considered as control. RESULTS: During the study period, 50,965 births occurred and 3,336 malformed children were born. Eighteen (3 stillborn) had esophageal atresia with a rate of 3,53 per 10,000 born alive. Overall survival was 73%. Survival among children classified in Waterson groups A and B was 100% and 50% among those classified in group C. Seventy two percent had associated malformations, being congenital cardiopathies and skeletal malformations the most frequent. VACTERL association was found in 44% of children. All stillborn children had other severe malformations. When compared to controls, malformed children had a lower weight, a lower gestational age, their mothers had a higher age, a higher frequency of relatives with malformations and a higher frequency of maternal diseases during the first trimester of pregnancy. CONCLUSIONS: The rate of esophageal atresia found in this study is similar to that reported in other Chilean obstetrical units as part of the Latin American Study of Congenital Malformations (ECLAMC).

Abnormalities, Multiple↗
PubMed1999

[Paternity analysis using four DNA markers amplified by polymerase chain reaction].

BACKGROUND: DNA typing in forensic analysis is a useful tool to analyze paternity due to its high discrimination power. AIM: To report the experience of Servicio Medico Legal in Santiago, resolving cases of dubious paternity. SUBJECTS AND METHODS: Four highly polymorphic loci, amplified by polymerase chain reactions, were analyzed in 153 cases of uncertain paternity. The paternity index was calculated for each case. RESULTS: The four genetic markers analyzed provided an exclusion probability of 0.933 for the general population in Santiago. Thirty-seven cases were excluded as parents. In 31 cases, the paternity index ranged from 19 to 100, considered as probable paternity and 77 cases had an index of over 100, considered as almost certain paternity. Eight cases had an index between 0.5 and 19, considered as inconclusive. All loci met Hardy-Weinberg expectations and their frequencies were similar to other data from people living in Santiago. CONCLUSIONS: The use of these genetic markers proved to be very useful, reliable and with a high exclusion power for paternity analysis.

DNA↗
PubMed1998

[Association between Kidd blood group and congenital malformations].

BACKGROUND: Since the discovery of blood groups, an association between these genetic polymorphisms and pathological phenotypes has been searched, looking for factors involved in the pathogenesis of diseases or biological population mechanisms that maintain these polymorphisms. In previous reports, we have described some associations between erythrocytic genetic marker segregation and the presence of congenital malformations. AIM: To explore the association between Kidd blood group and congenital malformations. PATIENTS AND METHODS: One hundred twenty two malformed newborns and their mothers and 136 normal newborns, seen at the Clinical Hospital of the University of Chile, were studied. RESULTS: Kidd blood group segregation distortions were found among male malformed newborns, that were not present in normal newborns. Among mothers of both groups of newborns, a paucity of heterozygous for this system was found. CONCLUSIONS: The association found between a blood group and congenital malformations, allows to state that malformed children have a different genetic background, when compared to normal children.

Congenital Abnormalities↗
PubMed1998

[Association between maternal heterozygosity for five blood groups and reproductive success].

BACKGROUND: In man, blood groups are polymorphic genetic systems. Maternal fetal incompatibility phenomena should lead to an elimination rather than a maintenance of these polymorphisms. A possible mechanism that could explain the persistence of these polymorphisms in natural populations is a selective reproductive advantage of heterozygous individuals. AIM: To explore the relationship between maternal heterozygosity for five blood groups and some obstetrical variables related to gestational success. MATERIAL AND METHODS: Using a case control design, to every mother giving birth to a malformed child a consecutive mother, whose offspring was normal, was assigned as control. All women were typified for ABO, Rh, Kidd, MNSs and Duffy blood groups. RESULTS: Two hundred two women were studied. There was only one stillbirth, born from a heterozygous mother for all analyzed loci. Mothers that were heterozygous or homozygous for all loci had a higher frequency of malformed children. Women homozygous for all loci had a higher frequency of living offspring than the rest of the sample. CONCLUSIONS: Heterozygous mothers for these genetic systems have a reproductive disadvantage.

Abortion, Spontaneous↗
PubMed1998

[Incidence of Down syndrome at a University Hospital Maternity of Chile. A 25-year record: 1972-1997].

BACKGROUND: The main function of ECLAMC (Latin American Congenital Malformations Collaborative Study) is to monitor congenital malformations in Latin American countries. Down syndrome, due to its medical and social importance, has received special concern. AIM: To measure the rates of incidence of Down syndrome in an University hospital maternity and to compare demographic variables of children born with the syndrome and healthy children. MATERIAL AND METHODS: Between 1990 and 1997, all children born with Down syndrome were registered, and the next healthy newborn of the same sex was considered as control. Also, using previous registers, the prevalence of newborns with Down syndrome and the mean maternal age from 1972 to 1997 were compared using regression equations. RESULTS: During the 7 years study period, 53 Down syndrome patients were born (66% female, two stillbirths). Thirty percent had congenital heart disease, forty seven had a regular 21 trisomy, one had a Robertsonian translocation, two had mosaicism for 21 trisomy, one was 48, XXX + 21 and one was 48, XXY + 21. Compared to controls, these children had lower gestational age and birth weight, mean maternal and paternal ages were higher, previous abortions were more frequent and the intergenesic period more prolonged. From 1972 to 1997, both the birth rate of Down syndrome and mean maternal age increased significantly with slopes of 0.13 years of age per year and 0.05/1000 born alive per year, respectively. Comparing both rates, the prevalence rate of Down syndrome increased in 0.31 per 1000 born alive per year of increment in maternal age. Father's age had no influence on this prevalence. CONCLUSIONS: In the period 1990-1197, a higher prevalence rate of Down syndrome than in previous periods in the same maternity, was found. The influence of maternal age on this prevalence was clearly established.

Chile↗
PubMed1997

[Paternity analysis: experience in Colombia].

BACKGROUND: Cases of dubious paternity may be resolved analyzing appropriate genetic markers in them. AIM: To report the experience of a Colombian University in resolving cases of dubious paternity. SUBJECTS AND METHODS: Fourteen serologic and electrophoretic genetic markers, that had a high probability of exclusion were analyzed in 349 cases of uncertain paternity. RESULTS: In 50 cases, paternity was excluded and in 34, paternity was attributed with a probability over 0.99. In 85 cases, the paternity index was between 19 and 100, that classifies paternity as probable and in 179 cases, the analysis was inconclusive. CONCLUSIONS: These genetic markers may be useful in the first approach to a paternity in investigation.

Colombia↗
PubMed1997

[Incidence of congenital malformations in 10 Chilean maternity hospitals that participate in the ECLAMC. Comparison of 3 periods (1971-1977, 1982-1988, 1989-1994)].

BACKGROUND: The Latin American Collaborative Study of Congenital Malformations is an epidemiological surveillance system for congenital malformations that operates in 11 Latin American Countries. AIM: To report the incidence of congenital malformations in 8 Chilean maternity hospitals participating in this study, between 1989 and 1994. MATERIAL AND METHODS: During the study period, 133,564 newborns and 1,196 stillbirths from 8 Chilean maternity hospitals were examined. These results were compared with those of a similar survey performed in 1982-1988. RESULTS: The proportion of stillbirths in the study period was 0.88%. There were 3,268 malformed newborns (2.42%) and 125 malformed stillbirths (10.45%). These proportion of malformations among newborns were lower and among stillbirths were higher than those reported for the rest of Latin American countries. When comparing the results with the previous survey, a reduction in the proportion of malformations among newborns was observed. However, in all Latin American countries, the prevalence of malformations in newborns and stillbirths increased in this period. In the period 1969-1995, in one Chilean hospital, maternal ages and the proportion of congenital malformation showed parallel and rising curves. CONCLUSIONS: This survey shows some differences in the prevalence of congenital malformations, when the figures are compared with other Latin American countries and with previous surveys.

Chile↗
PubMed1996

[Polydactyly: a genetic epidemiological study in Santiago, Chile].

The aim of this work was to study the prevalence at birth and family aggregation of polydactyly in Chile. We studied 125,652 newborns between 1969 and 1991. The prevalence was 1,329 for each 1,000 live newborns and higher in males than in females. Familial recurrence was 22.5% and gene penetrance was estimated as 0.5 for the postaxial-A type and 0.3 for the postaxial-B type. Gene penetrance for postaxial-B type was higher in males. Estimation of gene frequencies and mutation rates gave the highest values for postaxial-B polydactyly.

Chile↗
PubMed1996

[Paternity determination in cases of incest using multiallelic loci DNA polymorphisms].

The analysis of genetic markers in man allows to efficiently resolve cases of dubious paternity. Lately, the use of genetic markers derived from DNA analysis allows high exclusion probabilities. A particular case are those consultations whom the progenitors are closely related, in which the criteria to attribute paternity are modified. The present report explains the analysis methods and interpretation of results in situations of doubtful paternity in cases of incest between father and daughter, using monolocus DNA polymorphisms. The method is illustrated through the analysis of four cases seen at the Servicio Médico Legal of Santiago. To be able to determine paternity in these cases of incest, at least three multiallelic loci in which mother and son have different genotypes must be examined.

Alleles↗
PubMed1995

[Paternity study applying DNA polymorphism: evaluation of methods traditionally used in Chile].

Simultaneous detection of several VNTR loci using a single DNA probe is the basis of the technique called "DNA fingerprint" (DNAfp) of increasing application in parenthood identification. According to the data gathered by different laboratories worldwide, father exclusion can be made in a larger number of cases when compared with the customary tests based on erythrocyte antigens. The question could then be whether DNAfp will completely replace erythrocyte antigens tests. We report here our experience in applying DNAfp to 92 samples corresponding to 34 paternity cases and comparing these with the results obtained with the antigens of the systems ABO, Rh, MNSs, Duffy and Kidd. Most of the HaeIII/digested DNA samples produced 13 to 16 bands larger than 4.3 Kb (average 14,0761 +/- 2,205). Average band sharing between pairs of unrelated individual was 1,9107 +/- 1,083. Two cases presenting an a posteriori probability of being the father of 80.7% and 76.5% by erythrocyte antigens were clearly excluded by DNAfp. All exclusions made by antigens were confirmed by DNAfp. In the cases reported as father "rather probable" (28 cases) by DNAfp, these shared with the child 6,7407 +/- 1.7 bands on average. Because of time, cost and simplicity we favor a procedure starting with the antigens test and continuing with DNAfp only when an exclusion is not possible. Economy will increase as the number of exclusions increases.

Blood Grouping and Crossmatching↗
PubMed1994

[Duffy blood group in malformed newborns and their mothers].

The aim of this work is to analyze the distribution of Duffy blood group and the reproductive history of 148 malformed newborns and their mothers compared to 131 control pairs. The mother-child segregation of the system is analyzed using ITO matrixes. A higher frequency of heterozygote mothers for the system was found among the malformed group compared to controls. No differences in the reproductive history was found between Duffy system homozygote or heterozygote mothers.

Case-Control Studies↗
PubMed1994

[Maternal age as a risk factor for congenital malformations].

We studied 131,899 consecutive births at the Maternity of the University of Chile Clinical Hospital, finding 4887 newborns with congenital malformations (representing a rate of 37.05 per 1000 alive newborns). Between January 1982 and December 1992 there were 41,344 births and 295 stillbirths (0.7%). Among the latter, 41 were malformed (13.9%). A graphic comparing the mean annual rates of malformations and maternal ages, shows a sustained increase in malformations form 1972 to 1988, that decreases thereafter and stabilizes since 1982. There is a marked parallelism between the curves of malformation rates and maternal age (t21 = 1.057, p < 0.1). It is concluded that the risk of congenital malformations increases along with maternal ages.

Adult↗
PubMed1993

[Are congenital malformations increasing? Comparative study of 2 periods: 1971-1977 and 1982-1991, in the maternity of the Clinical Hospital of the University of Chile].

The aim of this work was to analyze the global incidence of congenital malformations at the Maternity of University of Chile Clinical Hospital in the periods between 1971 and 1977 and between 1982 and 1992. A significant and sustained increase in incidence was observed in the first period from 10.64 per 1000 born alive in 1971 to 33.79 in 1977. In the second period, the rates were stabilized at 60 to 70 per 1000 born alive. When comparing the incidence of 20 major or easily diagnosed malformations in the two periods, there was a significant increase in all during the second period. The possible causes of the increase in incidence are discussed, such as better diagnosis and registry, the use of ultrasound diagnosis and the incorporation of stillbirths to the registry during the second period.

Chile↗