Genetic cluster of fragile X syndrome in a Colombian district.

BACKGROUND: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene FMR1 in the general population is 0.2-0.4 per 1000 males and 0.125-0.4 per 1000 females. Population screening for FMR1 expanded alleles has been performed in newborns and in an adult population. However, it has never been carried out in an entire town. Ricaurte is a Colombian district with 1186 habitants, with a high prevalence of FXS, which was first described by cytogenetic techniques in 1999. METHODS: Using a PCR-based approach, screening for FXS was performed on blood spot samples obtained from 926 (502 males and 424 females) inhabitants from Ricaurte, accounting for 78% of total population. RESULTS: A high prevalence of carriers of the expanded allele was observed in all FXS mutation categories. Using the Bayesian methods the carrier frequency of FM was 48.2 (95% Credibility Region CR: 36.3-61.5) per 1000 males and 20.5 (95% CR:13.5-28.6) per 1000 females; the frequency of premutation carrier was 14.1 (95% RC: 8.0-21.7) per 1000 males (95% RC: 8.0-21.7 per 1000 males) and 35.9 (95% RC: 26.5-46.2) per 1000 for females (95% RC: 26.5-46.2 per 1000 females), and gray zone carrier was 13.4 (95% RC: 7.4-20.7) per 1000 males (95% RC: 7.4-20.7 per 1000 males) and 42.2 (95% RC: 32.2-53.8) per 1000 for females (95% RC: 32.2-53.8 per 1000 females). Differences in carrier frequencies were observed for premutation and FM alleles between natives and non-natives. CONCLUSIONS: This study shows that in Ricaurte the carrier frequencies of FMR1 expanded alleles (premutations and FMs) are higher than those reported in the literature, suggesting that Ricaurte constitutes a genetic cluster of FXS.

[A case of partial 1p36.1 deletion and partial trisomy 6p diagnosed by karyotype]. / Un caso de deleción parcial 1p36.1 y trisomía parcial 6p diagnosticadas por cariotipo.

The deletion of chromosomal region 1p36 is one of the most common sub-telomeric microdeletion syndromes and has distinctive dysmorphic features. On the other hand, partial trisomy of the short arm of chromosome 6 is a rare chromosomal abnormality with a variable phenotype. OBJECTIVE: To report a case with both chromosome abnormalities, and to highlight the importance of the karyotype as a diagnostic tool in dysmorphology. CLINICAL CASE: The case of is presented of a two month-old infant with several craniofacial anomalies, neck haemangioma, sacral pit, rhizomelic shortening, small hands and feet, left unilateral cryptorchidism, and hypotonia. The infant also suffered intrauterine growth restriction and is the product of the eighth pregnancy of a 28 years old woman. Due to the unspecific findings in phenotype, a karyotype was requested, which showed a partial deletion of 1p36.1 and a partial trisomy of chromosome 6. CONCLUSION: The development of new techniques in molecular biology has improved diagnostic possibilities in medical genetics. However, the traditional karyotype remains as an important diagnostic tool in patients with multiple congenital anomalies.

[Vascular disruption birth defects are not associated to chromosomal alterations]. / Defectos por disrupción vascular no asociados con alteraciones cromosómicas.

BACKGROUND: It is estimated that 2 to 35 of newborns present a congenital malformation. Some publications suggest that vascular disruption birth defects are not associated with chromosomal alterations detected by conventional karyotype. OBJECTIVE: to determine the frequency of chromosomal alterations detected by high resolution G banded karyotype in patients with vascular disruption birth defects in a Colombian population (South America). MATERIAL AND METHOD: transversal study. Population: a sample of patients identified by an epidemiological surveillance system of congenital malformations in a reference hospital in Cali, Colombia. RESULTS: 41 cases of vascular disruption birth defects were identified during a 36 month period; in a descending order those were: transverse reduction defects, hydranencephaly and gastroschisis. Two expert cytogenetists performed independent evaluation of the genetic material of the patients, and no chromosomal alterations detectable by G banded karyotype were identified. CONCLUSIONS: It is recommended that genetic counseling in cases of defects by vascular disruption is carried out taking into account the empirical recurrence risks reported for each one the types of defects by vascular disruption and the use of karyotype should be limited to cases with other malformations or chromosomal abnormality suspected by phenotype.

[Pollination ecology of three sympatric species of Oenocarpus (Arecaceae) in the Colombian Amazon]. / Ecología de la polinización de tres especies de Oenocarpus (Arecaceae) simpátricas en la Amazonia Colombiana.

The understanding of pollination mechanisms is vital for developing management and conservation actions of economically important species. In order to understand the pollination mechanisms of the promising palms in the genus Oenocarpus (Arecaceae), we studied floral morphology and biology, of three sympatric species in the Colombian Amazon: O. bataua, O. balickii and O. minor. During the period 2010-2012 we made direct and continuous observations of inflorescences (visitors, pollinators, and reproductive success) of the three species in every development phase. We determined the association of the palms with their floral visitors through a complex or interaction network, whereas specificity or preference of the insects for each individual palm was assessed through paired similarity analysis, similarity analysis (ANOSIM), and ordering analysis based on nonmetric multidimensional scaling (NMSD). The three species flowered throughout the year; their inflorescences have long rachillae that hang close to each other from a short rachis, and they bear flowers in dyads or triads. Inflorescences are protandrous, thermogenic; anthesis takes place during daytime but pollination is nocturnal. We recorded 79 species of insects, mainly beetles, 33 of which visited O. balickii, 63 visited O. bataua, and 33 visited 0. minor. Although they shared some visitors, their abundance during the pistillate phase, as well as their pollen loads showed that only a few species of Curculionidae and Nitidulidae are the principal pollinators of the three studied species. Differences in network structure between staminate and pistillate phases, as well as difference in abundance found with the ANOSIM and NMSD similarity tests, suggest a high specificity of pollinators, leading to reproductive isolation among.the three species. Because all pollinating beetles were found to develop their life cycles within the inflorescences, we hypothesize the occurrence of a specialized system of mutual dependence between each of this three Oenocarpus species and their pollinators. This specialization assures a year-round availability of the pollinators.

Clusters of sirenomelia in South America.

BACKGROUND: One hospital in the city of Cali, Colombia, of the ECLAMC (Latin-American Collaborative Study of Congenital Malformations) network, reported the unusual occurrence of four cases of sirenomelia within a 55-day period. METHODS: An ECLAMC routine for cluster evaluation (RUMOR) was followed that included: calculations of observed/expected ratios, site visits, comparison with comprehensively collected local, South American, and worldwide data, cluster analysis, and search for risk factors. RESULTS: All four Cali sirenomelia cases were born to mothers living in a 2 km(2) area, in neighboring communes, within the municipality of Cali. Considering the total births of the city of Cali as the denominator, and based on ECLAMC baseline birth prevalence rates (per 100,000) for sirenomelia (2.25, 95% CI: 2.66, 3.80), the cluster for this congenital abnormality was unlikely to have occurred by chance (observed/expected ratio = 5.77; 95% CI: 1.57-14.78; p = .002). No consistent common factor was identified, but vicinity to an open landfill as the cause could not be rejected. Another ECLAMC hospital in San Justo, Buenos Aires, Argentina, reported three further cases but these did not seem to constitute a nonrandom cluster. CONCLUSIONS: The methodology used to evaluate the two possible clusters of sirenomelia determined that the Cali sirenomelia cluster was unlikely to have occurred by chance whereas the sirenomelia cluster from San Justo seemed to be random.

Sirenomelia and cyclopia cluster in Cali, Colombia.

Sirenomelia and cyclopia share etiologic and pathogenic characteristics. A cluster of these two patterns of malformation in the city of Cali, Colombia, is described. Four sirenomelia and four cyclopia cases were born within a 165 days period in one hospital in Cali. The lapse between conception dates of first and last cases was shorter for sirenomelia (53 days) than for cyclopia (231 days). Based on ECLAMC (Latin American Collaborative Study of Congenital Malformations) published data, the observed/expected ratio (5.7) for both defects is statistically significant (P < 0.001). Mother's residence during the first trimester of pregnancy is concentrated in a same city quarter for four of the eight cases, close to a know polluting active landfill, and the other four cases, along the Cauca river, downstream from this landfill. Birth prevalence rates for two sentinel anomalies, that is, anal and esophageal atresia for sirenomelia and oral clefts for DeMyer holoprosencephaly spectra, were not higher in Cali than in the rest of ECLAMC material. The Computer Assisted Telephone Interviewing was applied to mothers of the 8 patients, and 32 matched controls. Seven of 295 variables were associated with sirenomelia, 3 of them related to house tap water, one to exposure to street drugs, one to physical injury, and 2 secondary to abnormal pregnancy outcome. None was associated with cyclopia. Results from hair dosage of heavy metals in the 8 patient's mothers were inconsistent. The time-space cluster is nonrandom for sirenomelia, and possibly random for cyclopia. The polluting landfill remains as a possible etiological factor.

Adaptación al sotobosque de una comunidad de palmas (Arecaceae) andinas desde la perspectiva de las tasas vitales / Adaptation to the undergrowth of a community of Andean palms (Arecaceae) from the vital rates perspective

Introducción: Las palmas tienen adaptaciones para prosperar en el entorno limitante del sotobosque, que se pueden examinar a partir del estudio de las tasas de supervivencia, crecimiento y fecundidad. Sin embargo, los estudios que abordan las estrategias de tasas vitales desarrolladas por una comunidad de palmas para habitar el sotobosque del bosque son escasos. Objetivo: Determinar y comparar las tasas vitales de supervivencia, crecimiento y fertilidad en una comunidad de palmas de sotobosque andino. Métodos: El estudio se realizó en el Parque Natural Chicaque, Colombia. En un área de 0.07 ha, donde se estudiaron las especies Chamaedorea linearis, C. pinnatifrons, Geonoma orbignyana y G. undata. Durante 2018 a 2019 se recolectaron datos correspondientes a supervivencia, crecimiento y fecundidad. Las tasas vitales se estimaron a partir de su relación con el tamaño de los individuos. Resultados: Se registraron un total de 597, 687, 453 y 690 individuos en 0.1 ha de C. linearis, C. pinnatifrons, G. orbignyana y G. undata, respectivamente. Las cuatro especies tuvieron una alta supervivencia de plántulas, bajas tasas de crecimiento en individuos sin tallo, baja producción de hojas, pocas hojas totales, una alta longevidad de las hojas, e inicio de la reproducción con un tallo de baja altura. No obstante, hubo diferencias entre las especies en las que G. orbignyana y C. pinnatifrons presentaron patrones comúnmente vistos en las palmas del sotobosque. Por el contrario, C. linearis y G. undata tienen estrategias de crecimiento mixtas para hacer frente a los espacios abiertos y las condiciones del sotobosque, ya que sus hojas y copas son más grandes, tienen mayores tasas de crecimiento del tallo y la reproducción comienza a mayor altura. En cuanto a los géneros, las Chamaedoreas tuvieron unas tasas de crecimiento y reproducción altas, pasando la mayor parte de su vida como adultos. Por su parte, las Geonomas priorizan la permanencia de los individuos, con sus ciclos de vida largos, tasas de crecimiento más bajas. Conclusiones: Las Chamaedoreas priorizan crecimiento y reproducción, mientras que las Geonomas priorizan la permanencia. Las condiciones limitantes del sotobosque parecen favorecer estas dos estrategias de crecimiento típicas de las especies estudiadas. Estos resultados pueden considerarse como un paso hacia el conocimiento de las estrategias de la coexistencia de las comunidades de palmeras en los bosques.

Introduction: Palms have adaptations to thrive in the limiting environment of the understory, which can be examined from studying their survival, growth and fecundity rates. However, studies that address the vital rates strategies developed by a community of palms to successfully inhabit the forest understory are scarce. Objective: To determine and compare the vital rates of survival, growth and fecundity in a community of Andean understory palms. Methods: The study was carried out in the Chicaque Natural Park, Colombia in an area occupying 0.07 ha, focused on the species Chamaedorea linearis, C. pinnatifrons, Geonoma orbignyana and G. undata. During 2018 and 2019, data corresponding to survival, growth and fecundity of these species were collected. The vital rates were estimated from their relationship with the size of the individuals. Results: A total of 597, 687, 453 and 690 individuals were registered in 0.1 ha of C. linearis, C. pinnatifrons, G. orbignyana and G. undata, respectively. The four species had high survival of seedlings, low growth rates in stemless individuals, low leaf production, few total leaves, a high longevity of the leaves and start of reproduction with low-height aerial stem. However, we found differences among species in which G. orbignyana and C. pinnatifrons demonstrated patterns commonly seen in understory palms. By contrast, C. linearis and G. undata had mixed growth strategies to cope with open spaces and understory conditions, as their leaves are larger, have larger stem growth rates and reproduction begins at a higher height. In terms of the genera, Chamaedoreas had fast growth and reproduction rates, spending most of their lives as adults. Meanwhile, Geonomas prioritizes the stasis of individuals, with its long-life cycles and lower growth rates. Conclusions: Chamaedoreas prioritizes growth and reproduction, while Geonomas prioritizes stasis. The limiting conditions of the understory seem to favor these two growth strategies in the species. These results can be considered as a step towards better understanding the strategies of a community of palms in the understory.

Low-level laser-assisted liposuction: the Neira 4 L technique.

Low-level laser-assisted liposuction (LLLL), known as the Neira 4 L technique, is an excellent adjuvant tool for the surgeon practicing liposculpture. A low-level laser is used to create a transitory pore in the cell membrane of the adipocyte to move fat from inside the cell to the interstitial space outside without killing the cell. LLLL has been performed successfully in in-vitro and human adipose tissue cultures. It protects the patient from the surgical trauma of liposuction by protecting and preparing tissues for the surgical trauma; modulating the inflammatory response to prevent short and long-term side effects of surgery; and improving the quality and quantity of the healing process by accelerating recovery time, modulating secondary cicatrization, and preventing postoperative neuralgias.