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Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

Facial morphometry using computerised image analysis was performed on patients with growth hormone receptor deficiency (Laron syndrome) from an inbred population of southern Ecuador. Morphometrics were compared for 49 patients, 70 unaffected relatives, and 14 unrelated persons. Patients with growth hormone receptor deficiency showed significant decreases in measures of vertical facial growth as compared to unaffected relatives and unrelated persons with short stature from other causes. This report validates and quantifies the clinical impression of foreshortened facies in growth hormone receptor deficiency.

Adolescent↗

Prevalence study of neurologic disorders in Kelibia (Tunisia).

A full-scale survey, in Kelibia, Tunisia, screening 34,874 persons started on July 1, 1985. The accuracy of this survey was evaluated by a second survey using a randomized sample of 1,673 subjects (control survey). Better selection and training of the interviewers during the control survey led to a higher positive predictive value with no modification in prevalence ratios of neurologic disorders. The control survey helped to validate the full-scale survey data which were then used to establish the prevalence ratios of major neurologic disorders in Kelibia. Prevalence ratios, age-adjusted to the WHO population, were compared to those of studies using similar methodology. Migraine prevalence ratios in Nigeria, Ecuador, and Kelibia were equivalent. Epilepsy and Parkinson's disease prevalence ratios were close to those of other similar studies. The stroke prevalence ratio was low, compared to other studies, but was not the lowest. It seems that in Kelibia, stroke does not constitute a public health problem as it does in the USA or urban China. The large full-scale survey, in Kelibia, provided estimates of prevalence ratios for stroke, epilepsy, migraine and other common neurologic disorders for comparisons with other countries. However, definitions of neurologic disorders and diagnostic criteria differ from one study to another making difficult the comparison of results between different countries. Had the WHO protocol developed well-defined criteria and a standardized neurologic examining tool, more accurate comparisons could have been made.

Adult↗

Immunoglobulin kappa chain allotypes (KM) in onchocerciasis.

GM and KM allotypes, powerful tools for genetic characterization of human populations, have been shown to play an important role in genetic predisposition to some infectious diseases. Two diverse racial groups--Afro-Ecuadorians and Amerindians--living in a single restricted geographical area of Ecuador, appear to have different risk factors for acquisition and clinical expression of onchocerciasis, a disease caused by the filarial parasite Onchocerca volvulus. In this study, GM and KM allotypes were determined in 25 Afro-Ecuadorians and 24 Amerindians infected with Onchocerca volvulus (INF) and in putative immune individuals (PI). In Afro-Ecuadorians, the frequency of the homozygous KM 3 phenotype was significantly decreased in INF as compared with the PI group (20 vs. 68%; P= 0.0012), while the frequency of the heterozygous KM 1,3 phenotype was increased in INF as compared with the PI subjects (48 vs. 9%; P= 0.0044). These results suggest that in Afro-Ecuadorians KM 3 is associated with a lower relative risk (resistance), whereas KM 1,3 is associated with an increased risk (susceptibility) of onchocerciasis.

Africa↗

Ecuadorian Andean women's nutrition varies with age and socioeconomic status.

An agricultural project in Highland Ecuador provided a model context to better understand the nutrition of rural women. The adequacy of women's nutrition and the strength of associations with age and socioeconomic status were studied in 104 rural households over four rounds (two seasons) during the 1995-1996 agricultural year using a cross-sectional with repeated-measures design. Women were at high risk for micronutrient deficiencies (calcium, iron, riboflavin, and vitamin B12) due to low intakes of animal products. Two distinct constructs representing socioeconomic status were identified: modern lifestyle and farming wealth. In multivariate models, farming wealth was associated with quality of women's diet (animal protein adjusted for energy, p = 0.01). Diet quality, in turn, was positively associated with anthropometric status (p = 0.02). Women over the age of 50 weighed approximately 3.7 kg less than younger women and consumed less energy (300 kcal) and micronutrients (p < 0.05). Age was positively associated with respiratory morbidity (p = 0.01). These findings, while directly relevant to a specific context, suggest the need for cross-cultural studies to identify the extent of, and factors contributing to, the risk of nutritional inadequacy in postreproductive women in developing countries.

Adult↗

Pesticides and health in highland Ecuadorian potato production: assessing impacts and developing responses.

Pesticide use in highland Ecuador is concentrated in the high-risk, commercial production of potatoes. Small farm families experience considerable exposure and adverse health consequences. The authors describe a three-pronged strategy to reduce health impacts: 1) a community-based process of education and provision of personal protective equipment to reduce exposure; 2) farmer field schools to increase agro-ecosystem understanding and to reduce pesticide use; and 3) policy interventions to restructure incentives and to reduce availability of highly toxic insecticides. They discuss the challenges faced by each and the ongoing need for integrated interventions both to reduce adverse pesticide health impacts in the developing world and to promote sustainability of agricultural production in highland ecosystems.

Agricultural Workers' Diseases↗

Mercury levels in urine and hair of children in an Andean gold-mining settlement.

This field study investigated mercury (Hg) levels in urine and hair of Andean children of indigenous Saraguro and Metizo gold miners in the Nambija, Ecuador gold mining settlement. Spot samples of urine and hair samples were collected concurrently from 80 children each. Urine samples were used to determine the inorganic Hg burden, while hair samples were used as an index of methylmercury (MeHg) exposure from consumption of Hg contaminated fish. The mean level of Hg in urine (HgU) was 10.9 microg/L, and the mean level in hair (HgH) was 6.0 microg/g. Regression analysis showed a significant association (r = 0.404, p = 0.0007) between matched HgU and HgH samples. Mean HgU and HgU levels tended to be higher for children aged 6-14 years than for a younger group. The wide range of Hg levels in the urine and hair of Andean children of gold miners may place them at risk for neurodevelopmental and learning disorders.

Adolescent↗

Neurocognitive screening of mercury-exposed children of Andean gold miners.

Performance on Raven's Coloured Progressive Matrices (RCPM) test of visual-spatial reasoning was used to evaluate the effects of mercury (Hg) exposure on 73 Andean children aged 5 to 11 years (mean: 8.4) living in the Nambija and Portovelo gold mining areas of Ecuador, where Hg is widely used in amalgamation. Mean levels of Hg found in blood (Hg(B)), urine (Hg(U)), and hair (Hg(H)) samples were 5.1 microg/L (SD: 2.4; range: 1-10 microg/L), 13.3 microg/L (SD: 25.9; range: 1-166 microg/L), and 8.5 microg/g (SD: 22.8; range: 1-135 microg/g), respectively. Of the children in the Nambija area 67-84.9% had abnormal RCPM standard scores (i.e., < or = 25%tile), depending on the test norm used in the data analysis. Higher standard scores for Peruvian (t = 4.77; p = < 0.0001) and Puerto Rican (t = 4.51; p = < 0.0001) norms than for U.S. norms suggested a linguistic influence. No difference was found between Peruvian and Puerto Rican norms (t = 0.832; p = < 0.408), which showed a significant positive correlation (r = 0.915, p = < 0.0001). Children with abnormal Hg(B) and Hg(H) levels had significantly lower scores on the RCPM subtest B than did children with nontoxic Hg levels (t = -2.16; p = < 0.034). These results suggest that a substantial number of Hg-exposed children in the Nambija study area have neurocognitive deficits in visual-spatial reasoning.

Child↗

Expression of serum insulin-like growth factors, insulin-like growth factor-binding proteins, and the growth hormone-binding protein in heterozygote relatives of Ecuadorian growth hormone receptor deficient patients.

Recently, an isolated population of apparent GH-receptor deficient (GHRD) patients has been identified in the Loja province of southern Ecuador. These individuals presented many of the physical and biochemical phenotypes characteristic of Laron-Syndrome and are believed to have a defect in the GH-receptor gene. In this study, we have compared the biochemical phenotypes between the affected individuals and their parents, considered to be obligate heterozygotes for the disorder. Serum GH, insulin-like growth factor I and II (IGF-I and IGF-II) levels were measured by RIA Insulin-like growth factor binding proteins. (IGFBPs) were measured by Western ligand blotting (WLB) of serum samples, following separation by sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and relative quantitation of serum IGFBPs was performed with a scanning laser densitometer. Serum GH-binding protein (GHBP) levels were measured with a ligand-mediated immunofunctional assay using a monoclonal antibody raised against the GHBP. These values were then compared to values obtained from normal, sex-matched adult Ecuadorian controls, to determine if the above parameters were abnormal in the heterozygotes. The serum IGF-I levels of the GHRD patients were less than 13% of control values for adults and 2% for children. However, the IGF-I levels of both the mothers and fathers were not significantly different from that of the control population. The serum IGF-II levels of the GHRD patients were approximately 20% of control values for adults and 12% for the children. The IGF-II levels of the mothers were reduced, but were not significantly different from that of the control population. However, IGF-II levels of the fathers were significantly lower than those of controls (64% of control male levels). WLB analysis of serum IGFBP levels of the affected subjects demonstrated increased IGFBP-2 and decreased IGFBP-3, suggesting an inverse relationship between these IGFBPs. The GHRD patients who had the lowest serum IGFBP-3 levels (as measured by WLB) demonstrated a serum protease activity that could proteolyze 125I-IGFBP-3. GHRD patients who had higher serum IGFBP-3 levels lacked this serum protease activity. There were no differences in the serum IGFBP profiles of the mothers or the fathers for either IGFBP-2 or IGFBP-3, and serum from both groups lacked the ability to significantly proteolyze 125I-IGFBP-3. While GHRD patients had very low levels of serum GHBP, some patients did have measurable GHBP levels.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗

Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives.

Heterozygosity for certain mutations of the GH receptor (GHR) gene has been proposed as the cause of partial resistance to GH, and there has been a recent demonstration of a dominant-negative effect of such a mutation in a mother and child. To examine the effect of heterozygosity in a large genetically homogeneous population with GHR deficiency, in which a substantial number of heterozygous (carrier) subjects and homozygous normal individuals can be compared, we studied a population in Ecuador in which 70 individuals with GHR deficiency were homozygous for the E180 splice mutation. We found that 58 heterozygous relatives of probands were not significantly shorter than 37 homozygous normal relatives [SD score (SDS) for height -1.85 +/- 1.04 (SD) vs. -1.55 +/- 0.96, P > 0.10]. When only those families with both homozygous normals and carriers were compared, the 33 heterozygous and 29 normal relatives did not differ significantly in height SDS (-1.98 +/- 1.07 vs. -1.77 +/- 0.91, P > 0.3). If heterozygosity for the E180 splice mutation were to influence stature, heights of heterozygous parents of probands would be expected to correlate with those of probands and of carriers who are their offspring and not with heights of their homozygous normal children. Parental height SDS did not correlate with height SDS of affected offspring (r = 0.24). For unaffected siblings as a group or analyzed separately as normals or carriers, there was a strong correlation between parental and offspring SDS for height (P < 0.01 for all comparisons). Thus, the effect of homozygosity for the GHR mutation was so profound as to abolish parental influence on height, and there was no difference in the influence of parental stature between carrier and noncarrier offspring. These findings demonstrate no meaningful effect on stature of heterozygosity for the E180 splice mutation of the GHR, which is a functional null mutation and, in the homozygous state, results in profound short stature from severe insulin-like growth factor-I deficiency.

Adolescent↗

Case report of remote anesthetic monitoring using telemedicine.

UNLABELLED: We report a case supporting the use of telecommunications technology from a remote location to monitor anesthetic events. Vital signs, data, and video were transmitted from surgery conducted in the remote Amazonian rainforests of Ecuador to Richmond, VA. This application of telemedicine technologies makes available expert advice from remote locations during surgical procedures. IMPLICATIONS: This study validates the use of telecommunications technology from a remote location to monitor an anesthetic event. This type of work makes expert advice available during surgical procedures.

Adult↗

Low-bandwidth telemedicine for pre- and postoperative evaluation in mobile surgical services.

Low-bandwidth telemedicine was used for the pre- and postoperative evaluation of patients treated by a mobile surgery service in remote Ecuador. Realtime and store-and-forward telemedicine was employed, using PCs connected via the ordinary telephone network. Between February 2002 and July 2003, 144 patients were studied preoperatively and 50 postoperatively. It was possible to establish 20 satisfactory preoperative realtime connections, which allowed good-quality, simultaneous audiovisual transmission. Thus, there were 124 preoperative assessments done by store-and-forward telemedicine and 50 postoperative assessments. Diagnoses and management plans made by a surgeon using telemedicine were compared with those made independently by a second surgeon, who saw the patient face to face. Due to poor quality of the transmitted images, 43 patients were excluded from the preoperative study and 13 from the postoperative study. In the 101 preoperative evaluations, there was agreement in 78 cases (77%); in the 37 postoperative evaluations, there was agreement in 36 cases (97%). Telemedicine may reduce the time required on site for preoperative planning, and may provide reliable postoperative surveillance, thus improving the efficiency of mobile surgery services.

Ecuador↗

High lead exposure and auditory sensory-neural function in Andean children.

We investigated blood lead (B-Pb) and mercury (B-Hg) levels and auditory sensory-neural function in 62 Andean school children living in a Pb-contaminated area of Ecuador and 14 children in a neighboring gold mining area with no known Pb exposure. The median B-Pb level for 62 children in the Pb-exposed group was 52.6 micrograms/dl (range 9.9-110.0 micrograms/dl) compared with 6.4 micrograms/dl (range 3.9-12.0 micrograms/dl) for the children in the non-Pb exposed group; the differences were statistically significant (p < 0.001). Auditory thresholds for the Pb-exposed group were normal at the pure tone frequencies of 0.25-8 kHz over the entire range of B-Pb levels, Auditory brain stem response tests in seven children with high B-Pb levels showed normal absolute peak and interpeak latencies. The median B-Hg levels were 0.16 micrograms/dl (range 0.04-0.58 micrograms/dl) for children in the Pb-exposed group and 0.22 micrograms/dl (range 0.1-0.44 micrograms/dl) for children in the non-Pb exposed gold mining area, and showed no significant relationship to auditory function.

Adolescent↗

Bone mineral, histomorphometry, and body composition in adults with growth hormone receptor deficiency.

Growth hormone (GH) and insulin-like growth factor I (IGF-I) deficiencies have been associated with osteopenia in both children and adults. To examine the effects of growth hormone resistance on bone mineral and body composition, we studied 11 adults (mean age 30 years) with growth hormone receptor deficiency (GHRD, Laron syndrome) and 11 age- and gender-matched controls from Southern Ecuador. Bone mineral and body composition were determined by dual-energy X-ray absorptiometry. Bone physiology was assessed with biochemical markers of bone turnover and dynamic bone histomorphometry. Bone size and body composition differed markedly between subjects with GHRD and controls. Affected adults were 40 cm shorter than controls, had significantly less lean body mass, and had increased percent body fat. Bone mineral content and density (BMD) at the spine, femoral neck, and whole body were significantly lower in adults with GHRD than in controls. Mean BMD Z scores were -1.5 to -1.6 at all sites in affected women and -2.2 to -2.3 in men with GHRD. Estimated volumetric bone density (BMAD) at the spine and femoral neck, however, was not reduced in GHRD. Spine BMAD was 0.210 +/- 0.025 versus 0.177 +/- 0.021 for affected women versus controls (p < 0.05) and 0.173 +/- 0.018 versus 0.191 +/- 0.025 for men with GHRD versus normals (p = 0.31). Urinary pyridinoline concentrations were significantly greater in adults with GHRD than in controls, while type I collagen C-telopeptide breakdown products and markers of bone formation did not differ. Differences in histomorphometry were limited to a reduction in trabecular connectivity; bone volume and formation rate were similar to controls. These data confirm the importance of the GH/IGF axis in regulating bone size and body composition. The contribution of these peptides to the acquisition and maintenance of bone mineral is less certain since volumetric bone density was preserved despite low levels of IGF-I and IGFBP-3 associated with GH resistance.

Absorptiometry, Photon↗

Correlates of HIV risk among Ecuadorian adolescents.

The purpose of this study was to examine the relationship of HIV knowledge, demographics, and psychosocial factors with HIV risk behavior among high school students (N = 805) in urban and rural regions of Ecuador. Forty-three percent of the participants reported being sexually experienced. Of the sexually experienced participants, 50% reported never using condoms for intercourse, and 70% did not use condoms at last intercourse. A small minority of the sample felt that they were at risk for contracting HIV (18.5%). Educational aspirations past high school and residence in an urban area were significantly associated with decreased HIV risk (condom use at last intercourse and abstinence). High self-efficacy for condom use and strong refusal skills to unsafe sex were also significantly associated with decreased HIV risk. Consistent with prior research, the participants that reported their peers were sexually experienced were significantly more likely to have had sex. The discussion focuses on the use of interventions and education for promoting safer sexual behavior among Ecuadorian adolescents.

Adolescent↗

Using home gardens to decipher health and healing in the Andes.

Home gardens are a pervasive component of Andean agricultural systems, but have been ignored in anthropological and agronomic research. Recent research in the indigenous community of Saraguro, Ecuador, employed a combination of in-depth interviews, free-listing, videotaped walk-throughs, and mapping to explore the role of home gardens, which are established and controlled by women. Findings reveal that, although gardens offer multiple benefits, they are overwhelmingly devoted to the cultivation of medicinal plants, operating as de facto medicine cabinets that supply women with most of the resources they need to treat family illnesses. Results also suggest that the natural history of home gardens mirrors transformations within the family, and that Saraguro women study the contents of their neighbors' gardens, using this knowledge as a foundation for deciphering the owners' economic and health status. New threats to the sustainability of home gardens threaten the foundation of Saraguro's ethnomedical system and women's authority in the home and community.

Ecuador↗

A scan of molecular variation leads to the narrow localization of a selective sweep affecting both Afrotropical and cosmopolitan populations of Drosophila melanogaster.

Drosophila melanogaster originated in tropical Africa but has achieved a cosmopolitan distribution in association with human habitation. Cosmopolitan populations of D. melanogaster are known to have reduced genetic variation, particularly on the X chromosome. However, the relative importance of population bottlenecks and selective sweeps in explaining this reduction is uncertain. We surveyed variation at 31 microsatellites across a 330-kb section of the X chromosome located between the white and kirre genes. Two linked clusters of loci were observed with reduced variation and a skew toward rare alleles in both an Ecuador and a Zimbabwe population sample. Examining Zimbabwe DNA sequence polymorphism within one of these regions allowed us to localize a selective sweep to a 361-bp window within the 5' regulatory region of the roughest gene, with one nucleotide substitution representing the best candidate for the target of selection. Estimates of sweep age suggested that this fixation event occurred prior to the expansion of D. melanogaster from sub-Saharan Africa. For both putative sweep regions in our data set, cosmopolitan populations showed wider footprints of selection compared to those in Zimbabwe. This pattern appears consistent with the demographic amplification of preexisting sweep signals due to one or more population bottlenecks.

Animals↗

Pesticide exposure and stunting as independent predictors of neurobehavioral deficits in Ecuadorian school children.

OBJECTIVES: To examine possible effects on blood pressure, neurological function, and neurobehavioral tests in school-aged children with and without prenatal pesticide exposure in an area where stunting is common. METHODS: In a community of Northern Ecuador with intensive floriculture and a high female employment rate, we invited 79 children attending the 2 lowest grades of a public school for clinical examinations. In addition to a thorough physical examination, we administered simple reaction time, Santa Ana dexterity test, Stanford-Binet copying, and Wechsler Intelligence Scale for Children-Revised Digit Spans forward. Maternal interview included detailed assessment of occupational history to determine pesticide exposure during pregnancy. Recent and current pesticide exposure was assessed by erythrocyte acetylcholine esterase activity and urinary excretion of organophosphate metabolites. RESULTS: All eligible children participated in the study, but 7 children were excluded from data analysis due to other disease or age >9 years. A total of 31 of the remaining 72 children were classified as stunted based on their height for age. Maternal occupational history revealed that 37 children had been exposed to pesticides during development. After confounder adjustment, prenatal pesticide exposure was associated with a higher systolic blood pressure than in the controls. On neurological examination, 14 exposed children and 9 controls showed > or =1 abnormalities. Of 5 neurobehavioral tests, the Stanford-Binet copying test showed a lower drawing score for copying designs in exposed children than in controls. Stunting was associated with a lower score on this test only, and both risk factors remained statistically significant in a multiple regression analysis with adjustment for demographic and social confounders. Increased excretion of dimethyl and diethyl metabolites of organophosphates was associated with increased reaction time and no other outcomes. CONCLUSION: Prenatal pesticide exposure may cause lasting neurotoxic damage and add to the adverse effects of malnutrition in developing countries. The effects differ from those due to acute pesticide exposure.

Blood Pressure↗

[Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity].

We studied the growth hormone receptor (GHR) gene in 6 patients with Laron syndrome (LS) from 4 unrelated families. Exons 2 to 10 were amplified by PCR using specific intronic pairs of primers. The PCR products were directly sequenced. Our results showed that all 6 patients carried a homozygous GAG>GAA mutation in codon 180 of exon 6. This mutation did not change the translated amino acid, but created an abnormal splice site deleting 8 amino acids from the extracellular domain of GHR. Members of all 4 kindreds with the E180splice mutation were genotyped for 4 polymorphic intragenic sites: The retention or exclusion of exon 3, single nucleotide polymorphisms present in exons 6 and 10, and intron 9 polymorphic site. All 6 patients presented the same haplotype. The E180splice mutation was first described in a population of Spanish descendants from the Andes of Southern Ecuador. This mutation was also found in oriental Jewish patients from Israel. Our families share the same intron-9 haplotype observed in Ecuadorian and Israeli patients. We conclude that the E180splice mutation is an important cause of LS in Brazil and there is probably a founder effect since our patients, Ecuadorian and Israeli patients share the same haplotype in intron 9.

Adolescent↗