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1.
Rev. int. med. cienc. act. fis. deporte ; 22(85): 199-213, mar.-mayo 2022. tab
Article in English, Spanish | IBECS | ID: ibc-205437

ABSTRACT

En cada deporte es importante optimizar peso y composición corporal y la genética y los datos antropométricos pueden influir en rendimiento deportivo y salud, sobre todo en deportistas menores. Este estudio analiza 60 nadadoras artísticas entre 9 y 17 años, divididas en tres grupos de edad: ≤12, 13-15 y 16-17 años. Se realizó un análisis de medidas antropométricas, edad de menarquia, genotipo relacionado con rendimiento (gen ACTN3) y resultados deportivos, con objetivo de relacionar estos parámetros entre sí en los grupos de edad. Las nadadoras de mayor edad mostraron tendencia a portar el genotipo heterocigoto RX de ACTN3. En este estudio, la práctica de este deporte podría tener impacto en índice de masa corporal, pliegue tricipital, peso y edad de menarquia. La mayor prevalencia del genotipo heterocigoto ACTN3 R577X podría ofrecer una ventaja, pero el rendimiento en competición de las nadadoras artísticas tuvo poca relación con sus medidas antropométricas. (AU)


In sport, optimizing weight and body composition is important for performance although an excessive drive for thinness can lead to diminished performance and health problems. This is especially important in the youngest athletes. This study examines 60 national competition-level Spanish artistic swimmers aged 9-17 years. Participants were divided into 3 categories: 12 years and under, 13-15 and 16-17 years. The data analysed were anthropometric measures, menarche age, genotype related to performance (gene ACTN3) and athletic performance. Relationships between athletic performance and anthropometric or genetic data were compared among the three age groups. Swimmers showed a tendency to carry the heterozygous genotype RX of the ACTN3 gene in the older age group. In this study, this sport could have an impact on body mass index, triceps skinfold, weight, menarche age, and selection of one genotype, but the performance in competition of the artistic swimmers had little linking to anthropometric measures. (AU)


Subject(s)
Humans , Female , Child , Adolescent , Swimming/statistics & numerical data , Swimming/trends , Body Composition , Epidemiology, Descriptive , Genetics , Athletic Performance
4.
Rev. chil. cir ; 65(3): 271-278, jun. 2013. ilus, tab
Article in Spanish | LILACS | ID: lil-684040

ABSTRACT

Introduction: colonic diverticulosis, as diverticulitis, is a frequent disease in different stages of evolution. There is uncertainty about treatment options that are used in secondary peritonitis. The aim of this study is to determine the best treatment option for patients with peritonitis secondary to diverticulitis of the left colon in terms of postoperative morbidity (POM) and mortality, comparing Hartmann's procedure (HP) and resection with primary anastomosis (RPA). Material and Methods: systematic review. Studies in adults with peritonitis secondary to diverticulitis of the left colon treated with HP and RPA published between 1990 and 2011 were analyzed. TRIPDATABSE, IWO, MEDLINE, SciELO and LILACS databases were consulted and search strategies were applied using MeSH and free terms. Selected studies were analyzed using a score of methodological quality (MQ). The following variables were considered: mortality, POM, hospital stay, percentage of bowel transit reconstitution in patients undergoing HP and MQ of primary studies. Results: 26 primary studies were analyzed (47 series). There were no significant differences in the variable mortality (p = 0.0805), but significant difference was observed in POM (incompletely reported) (p = 0.0187). The median of MQ of the studies was 11 points for HP series and 10 for RPA series. Conclusion: the available evidence to determine the best treatment option in terms of mortality and POM in this kind of patients is insufficient. Studies with better level evidence and MQ are needed to clarify the uncertain.


Introducción: la enfermedad diverticular del colon es una entidad frecuente, como también la diverticulitis en sus diferentes estadios de evolución. Existe incertidumbre respecto de las opciones terapéuticas que se utilizan en el tratamiento de la peritonitis diverticular de colon izquierdo (PDCI). El objetivo de este estudio es determinar la mejor opción de tratamiento para pacientes con PDCI entre procedimiento de Hart-mann (PH) y resección con anastomosis primaria (RAP), en términos de mortalidad y morbilidad postoperatoria (MPO). Material y Método: revisión sistemática de la literatura. Se analizaron estudios realizados en adultos con PDCI tratados con PH y RAP, publicados entre 1990 y 2011. Se consultó en las bases de datos TRIPDATABSE, IWO, MEDLINE, SciELO y LILACS, utilizando estrategias de búsqueda con términos MeSH, palabras libres y operadores booleanos. Los estudios seleccionados fueron analizados mediante un escore de calidad metodológica (CM). Se consideraron las variables mortalidad, MPO, estadía hospitalaria, porcentaje de reconstitución de tránsito en pacientes sometidos a PH y CM de los estudios primarios. Resultados: se analizaron 26 estudios primarios (47 series de pacientes). No se encontraron diferencias significativas respecto de la variable mortalidad (p = 0,0805); pero sí en la variable MPO, reportada de forma incompleta (p = 0,0187). La mediana de la CM de los estudios primarios fue de 11 puntos para las series de PH y de 10 para las de RAP. Conclusión: la evidencia disponible no permite determinar la mejor alternativa terapéutica en términos de mortalidad y MPO en este tipo de pacientes. Se requieren estudios de mejor nivel de evidencia y CM para aclarar esta incertidumbre.


Subject(s)
Humans , Diverticulitis, Colonic/surgery , Diverticulitis, Colonic/complications , Peritonitis/surgery , Peritonitis/etiology , Anastomosis, Surgical , Diverticulitis, Colonic/mortality , Postoperative Complications , Peritonitis/mortality
5.
Clin. transl. oncol. (Print) ; 14(2): 157-159, feb. 2012.
Article in English | IBECS | ID: ibc-126116

ABSTRACT

BACKGROUND: CYP2D6 is an important cytochrome P450 enzyme. These enzymes catalyse the oxidative biotransformation of about 25% of clinically important drugs as well as the metabolism of numerous environmental chemical carcinogens. The most frequent null allele of CYP2D6 in European populations, CYP2D6*4, has been studied here in order to elucidate whether a relationship exists between this allele and the risk of developing breast cancer in a Spanish population. MATERIALS AND METHODS: Ninety-six breast cancer Spanish patients and one hundred healthy female volunteers were genotyped for the CYP2D6*4 allele using AmpliChip CYP450 Test technology. RESULTS: Homozygous CYP2D6*4 frequency was significant lower in breast cancer patients than in the control group (OR=0.22, p=0.04). The heterozygous CYP2D6*4 group also displayed lower values in patients than in controls but the difference was not significant (OR=0.698, p=0.28). Therefore, the presence of the CYP2D6*4 allele seems to decrease susceptibility to breast carcinoma in the selected population. CONCLUSIONS: A possible decreased transformation of procarcinogens by CYP2D6*4 poor metabolisers could result in a protective effect against carcinogens (AU)


Subject(s)
Humans , Female , Middle Aged , Aged , Breast Neoplasms/etiology , Carcinoma, Ductal, Breast/etiology , Carcinoma, Intraductal, Noninfiltrating/etiology , Carcinoma, Lobular/etiology , Cytochrome P-450 CYP2D6/genetics , Polymorphism, Genetic/genetics , Alleles , Case-Control Studies , DNA/genetics , Phenotype , Polymerase Chain Reaction , Risk Factors , Spain/epidemiology , Heterozygote
6.
Rev. méd. Chile ; 139(11): 1444-1450, nov. 2011. ilus
Article in Spanish | LILACS | ID: lil-627574

ABSTRACT

Background: Metabolic control of diabetic pregnant women is assessed using glycated hemoglobin (HbAlc) levels and fasting blood sugar. Another glycated protein, namely fructosamine, can be an indicator of average glucose levels during the last three weeks. Aim: To evaluate plasma fructosamine as an indicator of glycemic control in women with gestational diabetes. Patients and Methods: Prospective cohort study of 41 pregnant women aged 30 to 37 years, with gestational and pre-gestational diabetes. Blood glucose, HbAlc, fructosamine were measured. Newborn weight, and other prenatal and postnatal variables, were used to evaluate the correlation between metabolic control and the presence or absence of macrosomia. Results: The correlation observed between fructosamine and fasting blood glucose (r = 0.627, p < 0.001) was superior to that of HbA1c and blood glucose (r = 0.516, p < 0.001). No association was observed between macrosomia and levels of fructosamine, nor between the other studied variables. Conclusions: Fructosamine levels were not associated with macrosomia, but it could be better for the evaluation of glycemic control in patients with gestational diabetes since it allows short-term monitoring.


Subject(s)
Adult , Female , Humans , Pregnancy , Blood Glucose/analysis , Diabetes, Gestational/blood , Fasting/blood , Fetal Macrosomia/diagnosis , Fructosamine/blood , Glycated Hemoglobin/analysis , Biomarkers/blood , Epidemiologic Methods
7.
Health Technol Assess ; 15(33): 1-102, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21906462

ABSTRACT

BACKGROUND: Breast cancer is the most common cancer affecting women in the UK. Tamoxifen (TAM) is considered as the standard of care for many women with oestrogen receptor positive breast cancer. However, wide variability in the response of individuals to drugs at the same doses may occur, which may be a result of interindividual genetic differences (pharmacogenetics). TAM is known to be metabolised to its active metabolites N-desmethyl TAM and 4-hydroxytamoxifen by a number of CYP450 enzymes, including CYP2D6, CYP3A4, CYP2C9, CYP2C19 and CYP2B6. N-desmethyl TAM is further metabolised to endoxifen by CYP2D6. Endoxifen, which is also formed via the action of CYP2D6, is 30- to 100-fold more potent than TAM in suppressing oestrogen-dependent cell proliferation, and is considered an entity responsible for significant pharmacological effects of TAM. Thus, an association between the cytochrome P450 2D6 (CYP2D6) genotype and phenotype (expected drug effects) is believed to exist and it has been postulated that CYP2D6 testing may play a role in optimising an individual's adjuvant hormonal treatment. OBJECTIVES: To determine whether or not testing for cytochrome P450 2D6 (CYP2D6) polymorphisms in women with early hormone receptor positive breast cancer leads to improvement in outcomes, is useful for health decision-making and is a cost-effective use of health-care resources. DATA SOURCES: Relevant electronic databases and websites including MEDLINE, EMBASE and HuGENet [Centers for Disease Control and Prevention (Office of Public Health Genomics), Human Genome Epidemiology Network] were searched until July 2009. Further studies that became known to the authors via relevant conferences or e-mail alerts from an automatically updated search of the Scopus database were also included as the review progressed, up to March 2010. REVIEW METHODS: A systematic review of the clinical effectiveness and cost-effectiveness of CYP2D6 testing was undertaken. As it was not possible to conduct meta-analyses, data were extracted into structured tables and narratively discussed. An exploratory analysis of sensitivity and specificity was undertaken. A review of economic evaluations and models of CYP2D6 testing for patients treated with TAM was also carried out. RESULTS: A total of 25 cohorts were identified which examined clinical efficacy (overall survival and relapse/recurrence), adverse events and endoxifen plasma concentrations by genotype/phenotype. Significantly, six cohorts suggest extensive metabolisers (Ems) appear to have better outcomes than either poor metabolisers (PMs) or PMs + intermediate metabolisers in terms of relapse/recurrence; however, three cohorts report apparently poorer outcomes for EMs (albeit not statistically significant). There was heterogeneity across the studies in terms of the patient population, alleles tested and outcomes used and defined. One decision model proposing a strategy for CYP2D6 testing for TAM was identified, but this was not suitable for developing a model to examine the cost-effectiveness of CYP2D6 testing. It was not possible to produce a de novo model because of a lack of data to populate it. CONCLUSION: This is a relatively new area of research that is evolving rapidly and, although international consortia are collaborating, the data are limited and conflicting. Therefore, it is not possible to recommend pharmacogenetic testing in this patient population. Future research needs to focus on which alleles (including, or in addition to, those related to CYP2D6) reflect patient response, the link between endoxifen levels and clinical outcomes, and the appropriate pathways for implementation of such pharmacogenetic testing in patient care pathways.


Subject(s)
Antineoplastic Agents, Hormonal/therapeutic use , Breast Neoplasms/genetics , Cytochrome P-450 CYP2D6/genetics , Genotype , Tamoxifen/therapeutic use , Women's Health , Antineoplastic Agents, Hormonal/metabolism , Antineoplastic Agents, Hormonal/pharmacology , Breast Neoplasms/drug therapy , Breast Neoplasms/economics , Cost-Benefit Analysis , Female , Humans , Markov Chains , Mortality , Neoplasm Recurrence, Local , Pharmacogenetics , Phenotype , Prognosis , Sensitivity and Specificity , Tamoxifen/metabolism , Tamoxifen/pharmacology , Treatment Outcome , United Kingdom
8.
Rev Med Chil ; 139(11): 1444-50, 2011 Nov.
Article in Spanish | MEDLINE | ID: mdl-22446649

ABSTRACT

BACKGROUND: Metabolic control of diabetic pregnant women is assessed using glycated hemoglobin (HbAlc) levels and fasting blood sugar. Another glycated protein, namely fructosamine, can be an indicator of average glucose levels during the last three weeks. AIM: To evaluate plasma fructosamine as an indicator of glycemic control in women with gestational diabetes. PATIENTS AND METHODS: Prospective cohort study of 41 pregnant women aged 30 to 37 years, with gestational and pre-gestational diabetes. Blood glucose, HbAlc, fructosamine were measured. Newborn weight, and other prenatal and postnatal variables, were used to evaluate the correlation between metabolic control and the presence or absence of macrosomia. RESULTS: The correlation observed between fructosamine and fasting blood glucose (r = 0.627, p < 0.001) was superior to that of HbA1c and blood glucose (r = 0.516, p < 0.001). No association was observed between macrosomia and levels of fructosamine, nor between the other studied variables. CONCLUSIONS: Fructosamine levels were not associated with macrosomia, but it could be better for the evaluation of glycemic control in patients with gestational diabetes since it allows short-term monitoring.


Subject(s)
Blood Glucose/analysis , Diabetes, Gestational/blood , Fasting/blood , Fetal Macrosomia/diagnosis , Fructosamine/blood , Glycated Hemoglobin/analysis , Adult , Biomarkers/blood , Epidemiologic Methods , Female , Humans , Pregnancy
9.
Rev. chil. cir ; 62(6): 587-593, dic. 2010. ilus
Article in Spanish | LILACS | ID: lil-577305

ABSTRACT

Background: Two stage hepatectomy takes advantage of the compensatory regeneration of the liver after a first non curative hepatectomy, to achieve a curative excision in a second intervention. Aim: To report an initial experience with two stage hepatectomy. Material and Methods: Out of sixty four patients who underwent hepatectomy in our institution in the presented period, eight met criteria for colorectal primary and bilateral liver metastatic disease, which we report. Results: Eight patients were subjected to a right portal ligation. In four, a simultaneous metastasis excision in the left lobe was performed. Four to eight weeks later, five were subjected to a right hepatectomy. One patient, that had a relapse of a previous hepatectomy and colectomy, was explored, ligated and afterwards subjected to surgery plus radiofrequency. The six patients that were subjected to excisions were followed for 3 to 39 months. One patient died due to massive pulmonary relapse at 18 months, two were operated again and subjected to radiofrequency, without evidence of residual disease. Two patients have no evidence of relapse and one had a relapse in a rib. Conclusions: In our series, two stage hepatectomy among patients with colorectal cancer and liver metastasis, but its long term results must be evaluated.


Introducción: La hepatectomía en dos etapas utiliza la regeneración compensatoria del hígado tras una primera hepatectomía no curativa para lograr una resección curativa en una segunda intervención. Objetivo: Presentar nuestra experiencia inicial aprovechando esta propiedad, en la estrategia de manejo de pacientes previamente declarados irresecables. Material y Método: Entre Marzo de 2006 y Marzo de 2010, fueron tratados 8 casos. Resultados: De 64 pacientes en los que se realizó hepatectomía, 8 de ellos, con enfermedad metastásica bilateral, confinada al hígado, fueron sometidos a ligadura portal del lado derecho; en la mitad se realizó resección simultánea de enfermedad del futuro remanente hepático izquierdo. Cuatro a 8 semanas más tarde, cinco fueron sometidos a hepatectomía derecha extendida o hepatectomía derecha (con segmento IV previamente resecado), y otro que era recurrente de previa hepatectomía central más colectomía, fue explorado, ligado y luego sometido a cirugía combinada con radiofrecuencia (RFA). Con seguimiento promedio para el grupo resecado RO (n = 6) de 18 meses (3-39), una paciente fallece por recurrencia pulmonar masiva a los 18 meses del diagnóstico, dos se someten a tercera cirugía y RFA con intención curativa, sin evidencia actual de enfermedad, dos no presentan recurrencia y una presenta recurrencia costal, sin evidencia de enfermedad intraabdominal. Otros dos están esperando la hepatectomía post resección del primario y ligadura portal. Conclusión: En nuestro medio, la colectomía y hepatectomía en múltiples etapas en pacientes con enfermedad hepática bilateral metastásica de origen colorrectal es una estrategia factible y razonable para lograr una resección con intención curativa.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Hepatectomy/methods , Colorectal Neoplasms/pathology , Liver Neoplasms/surgery , Liver Neoplasms/secondary , Colectomy , Ligation , Colorectal Neoplasms/surgery , Portal Vein/surgery
10.
Rev. méd. Chile ; 138(2): 213-216, feb. 2010. ilus
Article in Spanish | LILACS | ID: lil-546213

ABSTRACT

We report a 16-year-old boy, who suffered a right vent ride penetrating injury caused by a sharp blade that evolved to cardiac tampon. He underwent surgery and was discharged four days later. Thirteen days later, a cardiac murmur was found. An echocardiography showed an aorta-right ventricular fistula. Surgical closure was performed through an aortotomy on cardiopulmonary by pass. The control echocardiography showed a small residual fistula, which closed spontaneously three months later.


Subject(s)
Adolescent , Humans , Male , Heart Injuries/surgery , Vascular Fistula/surgery , Wounds, Gunshot/complications , Aorta/injuries , Cardiac Tamponade/etiology , Cardiac Tamponade/surgery , Echocardiography, Transesophageal , Heart Ventricles/injuries , Remission, Spontaneous , Vascular Fistula/etiology
11.
Hum Biol ; 79(4): 381-94, 2007 Aug.
Article in English | MEDLINE | ID: mdl-18075003

ABSTRACT

We study the effects of several variables on the prereproductive mortality pattern in the isolated and rural population of La Alpujarra, located on the western Mediterranean coast (southeast Spain), in the first half of the 20th century. The study is a retrospective analysis from a total sample of 2,200 deliveries, 2,085 of which were born alive and 171 of which did not survive to the 20th birthday. The potential influences of birthdate of children, twinning, firstborn, parental inbreeding, and sex on Alpujarran mortality were analyzed through logistic regression. Parity, family size, and birth interval effects were estimated through the difference between observed and expected mortality rates. In every case four age groups of mortality were considered because of the large influence of child growth: neonatal (less than 1 month of life), postneonatal infant (between 1 month and 1 year old), childhood (1-5 years old), and youth (5-20 years old). The Alpujarran prereproductive mortality pattern can be summarized as the result of three main risk factors: biodemographic, biomechanical, and social and health determinants. In general, every factor showed a decreased effect as children grew. The most significant determinants were birthdate of children, which is more related to increased mother's awareness of child care than to health improvement, and family size associated with decreasing alimentary resources as the sibling number increased. Male mortality was higher than female mortality in children older than 1 year but not for infant mortality, possibly as a result of a reproductive behavior favorable to males. Although firstborn status and twinning appeared associated with high mortality, maternal age and birth interval were related to low risk, but these influences always ceased after the first month of life. Parental inbreeding did not show any effect on infant, childhood, or youth mortality.


Subject(s)
Health Status , Mortality/trends , Adolescent , Adult , Age Factors , Birth Intervals , Birth Order , Child , Child, Preschool , Demography , Family Characteristics , Female , Health Surveys , History, 20th Century , Humans , Infant , Infant, Newborn , Interviews as Topic , Male , Mortality/history , Retrospective Studies , Risk Factors , Spain
12.
Hum Biol ; 74(5): 695-706, 2002 Oct.
Article in English | MEDLINE | ID: mdl-12495083

ABSTRACT

A south central Moroccan sample was analyzed for 20 nuclear DNA polymorphisms (restriction fragment length polymorphisms). The population was chosen on the basis of available information on its history, making it suitable for comparisons with data from other European populations. The markers analyzed have been studied previously in several human groups from different continents, and data on African and European samples have been compared to evaluate the genetic affinity of the studied sample with other populations, especially with two Spanish groups: Basques and Andalusians. Heterozygosity levels showed intermediate values between the African and European groups and higher than those found so far in an African group for the studied markers. Genetic distances closely matched geographical relationships through neighbor-joining tree and correspondence analysis, the Moroccans being closer to the European groups than the sub-Saharan Africans included in the analysis. Allele distributions revealed specific population associations with large weight of several alleles in the differentiation of some groups. Gene flow from sub-Saharan Africa appears to be relevant in understanding the differentiation of present Moroccan populations.


Subject(s)
DNA/genetics , Gene Frequency/genetics , Genetics, Population , Polymorphism, Restriction Fragment Length , Africa , Europe , Factor Analysis, Statistical , Female , Genetic Markers/genetics , Heterozygote , Humans , Male , Morocco
13.
Hum Biol ; 73(4): 561-73, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11512682

ABSTRACT

This study attempted to analyze the effect of several factors on the stillbirth pattern in a relatively isolated rural population, La Alpujarra (Spain), during the first half of the 20th century. The study was a retrospective analysis from a total sample of 2199 births to 525 mothers, allowing for birth year of mother, maternal age, parental inbreeding, family size, birth order, sex, single/twin delivery, and birth interval. Binomial probability distribution of stillbirths provided no evidence for any significantly increased risk in relation to family size. Analysis of covariance (ANCOVA) of stillbirth risk in affected families indicated a significant effect for sex of the child, parental consanguinity, and birth year of mother. Logistic regression showed increased risk in twin delivery and pregnancy order one, but not for birth order other than one. Multivariate analysis of variance (MANOVA) testing for differences between affected and unaffected families supported a temporal decrease of stillbirths during the period studied. Although the birth interval average was significantly shorter in affected families (p < 0.0001), this association did not hold, in a more detailed analysis, for individual intervals in these families (p = 0.20). There was no significant effect of maternal age on stillbirths in the whole sample or limited to first pregnancies. These results suggest that birth order one and twin delivery were the main determinants of the stillbirth pattern in La Alpujarra. Furthermore, our data indicate that the decline in stillbirth rate began before medical facilities for perinatal care became available, which was not until after 1950. The temporal decrease in stillbirth rates may therefore be related to an increasing social attention to deliveries rather than to prenatal care medical facilities.


Subject(s)
Fetal Death/epidemiology , Rural Health/statistics & numerical data , Rural Population/statistics & numerical data , Adult , Analysis of Variance , Birth Intervals , Birth Order , Consanguinity , Family Characteristics , Female , Fetal Death/etiology , Humans , Infant, Newborn , Logistic Models , Male , Maternal Age , Medically Underserved Area , Mediterranean Region/epidemiology , Middle Aged , Population Surveillance , Retrospective Studies , Risk Factors , Spain/epidemiology , Surveys and Questionnaires , Twins/statistics & numerical data
14.
Am J Hum Biol ; 13(2): 212-9, 2001.
Article in English | MEDLINE | ID: mdl-11460866

ABSTRACT

An anthropologically well-defined Spanish sample from La Alpujarra (SE Spain) was analyzed for 73 nuclear DNA polymorphisms. The population was chosen on the basis of available information on its history and demographic characteristics making it suitable for comparisons with data from North African populations. The Moslem invasion in this area was longer than anywhere in the Iberian Peninsula (more than nine centuries). The markers analyzed have been studied previously in 10 human populations from different continents. The Alpujarrenian population was checked for these markers and it is the one with the highest number of chromosomes analyzed. Two new alleles were sized and heterozygosity levels were very similar to other European populations. Genetic distances closely matched geographical relationships both with neighbor joining tree and principal component analysis. Allele distributions revealed specific associations with some populations. This work reveals the importance of these markers for evolutionary studies of human populations.


Subject(s)
Genetics, Population , Polymorphism, Restriction Fragment Length , Africa, Northern/ethnology , Chi-Square Distribution , Female , Genetic Markers , Heterozygote , Humans , Male , Spain/ethnology
15.
Bull World Health Organ ; 79(1): 33-42, 2001.
Article in English | MEDLINE | ID: mdl-11217665

ABSTRACT

OBJECTIVES: The present study was carried out in seven maternity hospitals to determine the prevalence of maternal syphilis at the time of delivery and the associated risk factors, to conduct a pilot project of rapid syphilis testing in hospital laboratories, to assure the quality of syphilis testing, and to determine the rate of congenital syphilis in infants born to women with syphilis at the time of delivery--all of which would provide baseline data for a national prevention programme in Bolivia. METHODS: All women delivering either live-born or stillborn infants in the seven participating hospitals in and around La Paz, El Alto, and Cochabamba between June and November 1996 were eligible for enrolment in the study. FINDINGS: A total of 61 out of 1428 mothers (4.3%) of live-born infants and 11 out of 43 mothers (26%) of stillborn infants were found to have syphilis at delivery. Multivariate analysis showed that women with live-born infants who had less than secondary-level education, who did not watch television during the week before delivery (this was used as an indicator of socioeconomic status), who had a previous history of syphilis, or who had more than one partner during the pregnancy were at increased risk of syphilis. While 76% of the study population had received prenatal care, only 17% had syphilis testing carried out during the pregnancy; 91% of serum samples that were reactive to rapid plasma reagin (RPR) tests were also reactive to fluorescent treponemal antibody-absorption (FTA-ABS) testing. There was 96% agreement between the results from local hospital laboratories and national reference laboratories in their testing of RPR reactivity of serum samples. Congenital syphilis infection was confirmed by laboratory tests in 15% of 66 infants born to women with positive RPR and FTA-ABS testing. CONCLUSION: These results indicate that a congenital syphilis prevention programme in Bolivia could substantially reduce adverse infant outcomes due to this disease.


Subject(s)
Quality Assurance, Health Care , Syphilis Serodiagnosis/methods , Syphilis, Congenital/prevention & control , Syphilis/prevention & control , Analysis of Variance , Bolivia/epidemiology , Female , Hospitals, Maternity/standards , Humans , Infant, Newborn , Laboratories, Hospital/standards , Logistic Models , Pilot Projects , Pregnancy , Prevalence , Risk Factors , Syphilis/diagnosis , Syphilis/epidemiology , Syphilis, Congenital/diagnosis , Syphilis, Congenital/epidemiology
17.
Emerg Infect Dis ; 6(5): 487-92, 2000.
Article in English | MEDLINE | ID: mdl-10998379

ABSTRACT

To establish the frequency of necrotizing funisitis in congenital syphilis, we conducted a prospective descriptive study of maternal syphilis in Bolivia by testing 1,559 women at delivery with rapid plasma reagin (RPR). We examined umbilical cords of 66 infants whose mothers had positive RPR and fluorescent treponemal antibody absorption tests. Histologic abnormalities were detected in 28 (42%) umbilical cords (seven [11%] had necrotizing funisitis with spirochetes; three [4%] had marked funisitis without necrosis; and 18 [27%] had mild funisitis), and 38 [58%] were normal. Of 22 umbilical cords of infants from mothers without syphilis (controls), only two (9%) showed mild funisitis; the others were normal. Testing umbilical cords by using immunohistochemistry is a research tool that can establish the frequency of funisitis due to Treponema pallidum infection.


Subject(s)
Syphilis/diagnosis , Treponema pallidum/isolation & purification , Umbilical Cord/pathology , Antibodies, Bacterial/isolation & purification , Bolivia/epidemiology , Cohort Studies , Female , Humans , Infant, Newborn , Necrosis , Prospective Studies , Syphilis/epidemiology , Umbilical Cord/abnormalities , Umbilical Cord/microbiology
18.
Anthropol Anz ; 57(2): 97-103, 1999 Jun.
Article in English | MEDLINE | ID: mdl-10483480

ABSTRACT

The allele frequency distribution of 17 nuclear DNA restriction polymorphisms at 15 loci on chromosome 13 was examined in a sample of 70 unrelated autochthonous individuals from La Alpujarra rural mountainous region in Southeastern Spain. The markers typed, 14 associated with anonymous segments and three located on coding regions, constitute a subset from the battery of the nuclear RFLPs previously proposed for population studies (Bowcock et al. 1991). In our sample no Hardy-Weinberg equilibrium deviations were present and the average heterozygosity over all loci was 0.367 +/- 0.031. The significant differences for five markers observed between our sample and a Spanish Basque group underline the usefulness of this kind of DNA markers for the analysis of populations relationships even at the continental level.


Subject(s)
Chromosomes, Human, Pair 13 , Genetic Variation , Genetics, Population , Polymorphism, Restriction Fragment Length , Adult , Alleles , Consanguinity , Female , Gene Frequency , Genetic Carrier Screening , Genetic Markers/genetics , Humans , Male , Rural Population
19.
Am J Hum Biol ; 11(6): 745-752, 1999 Nov.
Article in English | MEDLINE | ID: mdl-11533990

ABSTRACT

The genetic polymorphism of four blood group systems (ABO, RH, MNSs, and DUFFY) was analyzed in two well-defined population samples coming from south-central Morocco and southeastern Spain. Both a controversial ancient common substrate and the long period of coexistence between North Africa and southern Spain during the eight centuries of the Islamic invasion of the Iberian Peninsula suggest a particular genetic relationship between northwestern Africa and southern Spain. Allele distributions in each sample are in general agreement with that expected according to the geographical and historical characteristics in the Mediterranean region. However, the differences between the Moroccan sample and other north African groups illustrate considerable genetic variability in this geographical region. In comparison with other samples from different regions of the Iberian Peninsula, the markers examined fail to demonstrate any particular affinity between the southern Spanish sample of La Alpujarra and Moroccan populations. Am. J. Hum. Biol. 11:745-752, 1999. Copyright 1999 Wiley-Liss, Inc.

20.
Ann Hum Biol ; 25(6): 589-96, 1998.
Article in English | MEDLINE | ID: mdl-9818965

ABSTRACT

The incidence of parental inbreeding on biological fitness was analysed in a sample of the Alpujarrenian population. Fitness was estimated as the fertility and offspring viability from conception to reproductive age. The analysed sample represents about 45% of the population from the Alta Alpujarra Oriental in southeastern Spain, and includes 847 families and 2916 pregnancies. The results showed slightly higher reproduction in consanguineous marriages, but the differences observed were not statistically significant. Higher pregnancy numbers are usually interpreted as stemming from greater immunological compatibility of the mother and foetus and may also reflect the significantly higher early foetal viability in this population. According to other authors, the great number of births observed in Alpujarrenian consanguineous marriages is, in part, a reproductive compensation for increased perinatal and neonatal mortality found as a possible negative result of homozygous combinations of deleterious alleles.


Subject(s)
Adaptation, Biological , Consanguinity , Abortion, Spontaneous , Female , Humans , Infant Mortality , Infant, Newborn , Male , Mediterranean Region , Pregnancy , Spain
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