Effect of a SO2 Rich Atmosphere on Tempera Paint Mock-Ups. Part 1: Accelerated Aging of Smalt and Lapis Lazuli-Based Paints

The authors would like to acknowledge the contributions made by Ana Mato and Lara de Villalobos in the acquisition and curation of the data. They also acknowledge the support of the CERENA (strategic project FCT-UID/ECI/04028/2019). Analyses were performed in the CACTI (Centro de Apoyo a la Investigación) Research Support Centre at the University of Vigo. Accelerating SO2 aging test were performed in Instituto Superior Tecnico (University of Lisbon, Portugal).The behavior of historic tempera paints exposed to pollutant gases is an important issue when developing conservation strategies. In this work, binary tempera paint mock-ups that were made with either smalt or lapis lazuli pigments mixed with either rabbit glue or egg yolk binders were exposed to an SO2 accelerated aging test in order to find out more about the forms and mechanisms of alteration resulting from pigment-binder interaction. To this end, spectrophotometry, hyperspectral image analysis, and profilometry were used to study macro-scale, physical changes taking place on the surface of the paints, affecting color, gloss, reflectance, and roughness. Likewise, chemical and mineralogical changes were evaluated by X-ray diffraction (XRD), Fourier transform infrared spectroscopy (ATR-FTIR), polarized light microscopy (PLM), and scanning electron microscopy with micro-analysis (SEM-EDS), which was also used to visualize micro-texture changes in the paints. The smalt-based tempera showed a higher degree of deterioration than the lapis lazuli-based tempera, in particular a notable whitening related to the precipitation of sulfate-rich salts and to binder and pigment chemical alterations. Moreover, whereas aged egg yolk-based paints showed visible color change due to damage to the oily binder and the pigments, the most evident change in rabbit glue-based paints was binder loss. The alteration suffered by the pigments varied in line with their composition; thus, smalt (blue cobalt-containing glass) grains were more sensitive to SO2 exposure than lapis lazuli-(Na,Ca)8[(S,Cl,SO4,OH)2|(Al6Si6O24)]-crystals. In the smalt grains, the SO2 test caused K+ leaching from the glass matrix, which was detected by means of K/Co ratios, but the lazurite crystals (main component of lapis lazuli) were unaffected (regardless of the binder used in the tempera). The most likely source of the crystallized sulfate rich salts were the impurities that were detected in association with the natural lapis lazuli pigment, i.e., calcite and diopside. Indeed, the precipitation of efflorescences is the main cause of the optical changes found in the smalt- and lapis lazuli-based tempera, in addition to the physical-chemical damage to the binders. The information reported here would be useful for preventive conservation, as well as for art restorers, who are planning work on paintings in which paints of this kind were used.Spanish Research Project AERIMPACT CGL2012-30729Spanish Research Project EXPOAIR P12-FQM-1889European Union (EU)Andalusian Research Group RNM-179Spanish Ministry of Economy and Competitiveness (MINECO) IJCI-2017-327

Rationale of the association between Mediterranean diet and the risk of frailty in older adults and systematic review and meta-analysis

Frailty is a geriatric syndrome whose frequency is increasing in parallel with population aging and is of great interest due to its dire consequences: increased disability, hospitalizations, falls and fractures, institutionalization, and mortality. Frailty is multifactorial but nutritional factors, which are modifiable, play a crucial role in its pathogenesis. Epidemiologic evidence supports that high-quality dietary patterns can prevent, delay or even reverse the occurrence of frailty. In order to add new knowledge bridging the gap as the main purpose of the present article we performed a comprehensive review of the rationale behind the association of MedDiet with frailty and a systematic review and meta-analysis updating the latest ones published in 2018 specifically examining the relationship of Mediterranean diet (MedDiet) and incident frailty. Adding the updated information, our results confirmed a robust association of a higher adherence to MedDiet with reduced incident frailty. Key components of the MedDiet, i.e., abundant consumption of vegetables and fruit as well as the use of olive oil as the main source of fat, all of which have been associated with a lower incidence of frailty, may help explain the observed benefit. Future well-designed and sufficiently large intervention studies are needed to confirm the encouraging findings of the current observational evidence. Meanwhile, based on the existing evidence, the promotion of MedDiet, a high-quality dietary pattern, adapted to the conditions and traditions of each region, and considering lifelong and person-tailored strategies, is an open opportunity to reduced incident frailty. This could also help counteract the worrying trend towards the spread of unhealthy eating and lifestyle models such as those of Western diets that greatly contribute to the genesis of chronic non-communicable diseases and disabilit

Development and validation of a prediction rule for growth hormone deficiency without need for pharmacological stimulation tests in children with risk factors

Introduction: Practice guidelines cannot recommend establishing a diagnosis of growth hormone deficiency (GHD) without performing growth hormone stimulation tests (GHST) in children with risk factors, due to the lack of sufficient evidence. Objective: Our goal was to generate an evidence-based prediction rule to diagnose GHD in children with growth failure and clinically identifiable risk factors. Methods: We studied a cohort of children with growth failure to build the prediction model, and a second, independent cohort to validate the prediction rule. To this end, we assessed the existence of: pituitary dysgenesis, midline abnormalities, (supra)sellar tumor/surgery, CNS infection, traumatic brain injury, cranial radiotherapy, chemotherapy, genetic GHD, pituitary hormone deficiencies, and neonatal hypoglycemia, cholestasis, or hypogenitalism. Selection of variables for model building was performed using artificial intelligence protocols. Specificity of the prediction rule was the main outcome measure in the validation set. Results: In the first cohort (n=770), the resulting prediction rule stated that a patient would have GHD if (s)he had: pituitary dysgenesis, or two or more anterior pituitary deficiencies, or one anterior pituitary deficiency plus: neonatal hypoglycemia or hypogenitalism, or diabetes insipidus, or midline abnormalities, or (supra)sellar tumor/surgery, or cranial radiotherapy ≥18 Gy. In the validation cohort (n=161), the specificity of the prediction rule was 99.2% (95% CI: 95.6–100%). Conclusions: This clinical rule predicts the existence of GHD with high specificity in children with growth disorders and clinically identifiable risk factors, thus providing compelling evidence to recommend that GHD can be safely diagnosed without recurring to GHST in neonates and children with growth failure and specific comorbidities.Fil: Clément, Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Grinspon, Romina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Yankelevich, Daniel Norberto. Practia S.A; Argentina. Fundación para el Desarrollo Argentino; ArgentinaFil: Martín Benítez, Sabrina. Hospital Pediatrico Humberto Notti ; Gobierno de la Provincia de Mendoza;Fil: de la Ossa, Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Ropelato, Maria Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Ballerini, Maria Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Keselman, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Braslavsky, Debora Giselle. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Pennisi, Patricia Alejandra. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Bergadá, Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Finkielstain, Gabriela Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Takeda Pharma; ArgentinaFil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentin

Desmoplastic fibroma of the alveolus maxillary associated with tuberous sclerosis : case report

La esclerosis tuberosa es un trastorno autosómico dominante que se manifiesta con la formación de hamartomas en múltiples órganos y sistemas, como el sistema nervioso central, la piel, los riñones, los pulmones y el corazón. Los pacientes se ven afectados por cuadros de convulsiones, así como por hallazgos cutáneos. En la cavidad oral, las lesiones se presentan en el esmalte dental y constituyen la presentación más frecuente, pero rara vez se encuentran lesiones en los maxilares. El fibroma desmoplásico es un tumor intraóseo benigno muy raro, localizado y fuertemente agresivo que se encuentra reportado tanto en huesos faciales como en otros huesos del cuerpo, y se asocia muy rara vez a la esclerosis tuberosa. En este artículo se presenta un caso clínico de un paciente de 12 años de edad con esclerosis tuberosa que presenta una lesión alveolar maxilar izquierda, diagnosticado como fibroma desmoplásico. Se discuten los métodos diagnósticos, su presentación clínica y tratamiento.Reporte de caso249-258Tuberous sclerosis is an autosomal dominant disorder that manifests with the formation of hamartomas in multiple organs and systems, including the central nervous system, skin, kidneys, lungs and heart. Patients are affected by seizures status, which are a common feature; also the majority of the patients presents cutaneous findings. Can find intraorally lesions are in tooth enamel constituting the most frequent and rarely present jaw injuries. The desmoplastic fibroma is a very rare benign bone tumor, is localized and highly aggressive, is reported in facial bones and other bones of the body and very rarely is associated with tuberous sclerosis. In this article, it presents a case of a 12 year old patient with tuberous sclerosis who presented a lesion in the left maxillary sinus diagnosed as desmoplastic fibroma. Diagnostic methods, clinical presentation and treatment are discussed

Gene expression analysis of aberrant signaling pathways in meningiomas

Examining aberrant pathway alterations is one method for understanding the abnormal signals that are involved in tumorigenesis and tumor progression. In the present study, expression arrays were performed on tumor-related genes in meningiomas. The GE Array Q Series HS-006 was used to determine the expression levels of 96 genes that corresponded to six primary biological regulatory pathways in a series of 42 meningiomas, including 32 grade I, four recurrent grade I and six grade II tumors, in addition to three normal tissue controls. Results showed that 25 genes that were primarily associated with apoptosis and angiogenesis functions were downregulated and 13 genes frequently involving DNA damage repair functions were upregulated. In addition to the inactivation of the neurofibromin gene, NF2, which is considered to be an early step in tumorigenesis, variations of other biological regulatory pathways may play a significant role in the development of meningiomaThis study was partially supported by Fondo de Investigaciones Sanitarias, Ministerio de Ciencia e Innovación, Spain, Grants PI‑08/1849 and PI‑10/1972; and by grant PI‑10‑045 from the Fundación Sociosanitaria de Castilla‑La Mancha, Spai

Evaluation of sperm integrin α5β1 as a potential marker of fertility in humans

Sperm selection for assisted reproduction techniques is generally based on basic parameters, while key aspects of sperm competence and its journey from the deposition site to the fertilization site are overlooked. Consequently, identifying molecular markers in spermatozoa that can efficiently predict the fertility of a semen sample could be of great interest, particularly in cases of idiopathic male infertility. When spermatozoa reach the female reproductive tract, it provides to them the cellular and molecular microenvironment needed to acquire fertilizing ability. In this sense, considering the role that integrin α5β1 of spermatozoa plays in reproduction-related events, we investigated the correlation between the subcellular localization of sperm integrin α5β1 and early embryo development outcome after in vitro fertilization (IVF) procedures in human. Twenty-four semen samples from normozoospermic men and metaphase II (MII) oocytes from healthy women aged under 38 years, from couples who underwent IVF cycles, were used in this work. Sperm α5β1 localization was evaluated by immunofluorescence assay using an antibody against integrin α5 subunit. Integrin α5β1 was mainly localized in the sperm acrosomal region (45.33±7.89%) or the equatorial segment (30.12±7.43%). The early embryo development rate (data obtained from the Fertility Center) correlated positively with the localization of α5β1 in the acrosomal region (number of usable embryos / inseminated oocytes: ρ = 0.75; p<0.01 and number of usable embryos/total number of two pronuclear zygotes: ρ = 0.80; p<0.01). However, this correlation was not significant when the equatorial segment mark was evaluated. In addition, human sperm released from co-culture with bovine oviductal epithelial cells (BOEC) showed a significant enrichment in the acrosomal localization pattern of α5β1 compared to those sperm that were not co-cultured with BOEC (85.20±5.35% vs 35.00±17.09%, respectively, p<0.05). In conclusion, the evaluation of sperm integrin α5β1 immunolocalization could be a useful tool to select sperm with fertilizing ability from human semen samples before IVF procedures.Fil: Vernaz, Zoilo José. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Estudios Farmacológicos y Botánicos. Universidad de Buenos Aires. Facultad de Medicina. Centro de Estudios Farmacológicos y Botánicos; Argentina. Universidad de Buenos Aires; ArgentinaFil: Lottero Leconte, Raquel María. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Estudios Farmacológicos y Botánicos. Universidad de Buenos Aires. Facultad de Medicina. Centro de Estudios Farmacológicos y Botánicos; ArgentinaFil: Alonso, Carlos Agustín Isidro. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Estudios Farmacológicos y Botánicos. Universidad de Buenos Aires. Facultad de Medicina. Centro de Estudios Farmacológicos y Botánicos; ArgentinaFil: Rio, Sofía. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Estudios Farmacológicos y Botánicos. Universidad de Buenos Aires. Facultad de Medicina. Centro de Estudios Farmacológicos y Botánicos; ArgentinaFil: Morales, Maia Florencia. Fecunditas Instituto de Medicina Reproductiva; ArgentinaFil: Arroyo Salvo, Camila Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Estudios Farmacológicos y Botánicos. Universidad de Buenos Aires. Facultad de Medicina. Centro de Estudios Farmacológicos y Botánicos; ArgentinaFil: Valiente, Carla Carolina. Fecunditas Instituto de Medicina Reproductiva; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Lovaglio Diez, María. Fecunditas Instituto de Medicina Reproductiva; ArgentinaFil: Bogetti, Maria Eugenia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Estudios Farmacológicos y Botánicos. Universidad de Buenos Aires. Facultad de Medicina. Centro de Estudios Farmacológicos y Botánicos; ArgentinaFil: Arenas, Gabriela. Fecunditas Instituto de Medicina Reproductiva; ArgentinaFil: Rey Valzacchi, Gaston Javier. Fecunditas Instituto de Medicina Reproductiva; ArgentinaFil: Perez Martinez, Silvina Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Estudios Farmacológicos y Botánicos. Universidad de Buenos Aires. Facultad de Medicina. Centro de Estudios Farmacológicos y Botánicos; Argentin

Characterization of electronic device use among children and adolescents aged 6 to 14

Uvod: Djeca i adolescenti svakodnevno koriste računala, mobitele i tablete, uz ostale elektroničke uređaje, u neakademskim aktivnostima. Bitno je karakterizirati utjecaj ovih uređaja na procese socijalizacije, interakcije i učenja u ovom segmentu populacije, a također je potrebno istražiti moguće štetne učinke povezane s njihovom uporabom. Cilj je bio opisati kako se ti uređaji koriste i njihov utjecaj na školski uspjeh, ponašanje i tjelesnu aktivnost djece i adolescenata od 6 do 14 godina. Materijali i metode: Ovo je presječna analitička studija 510 školske djece u dobi od 6 do 9 i od 10 do 14 godina iz Bogote i Cundinamarce, Kolumbija. Ispitani su pomoću ankete od 38 pitanja koja su karakterizirala korištenje uređaja i simptome anksioznosti i depresije, rješavanje sukoba, spavanje i školski uspjeh. Rezultati: Prosječna dob za početak korištenja uređaja bila je četiri godine. U obje skupine najviše su korišteni mobiteli (56,3% i 78,04%). Roditelji prate korištenje uređaja u 80% slučajeva. U 40% slučajeva upotreba uređaja bila je duža od 90 minuta dnevno. Oko 16% je također prijavilo poremećaje spavanja, frustraciju (48%), emocionalnu labilnost (20%) i suicidalne ideje (11%). 19% se nije igralo sa svojim vršnjacima, a 7% je izjavilo da nema bliske prijatelje. Zaključci: Ova studija pokazuje visoku izloženost elektroničkim uređajima od rane dobi i njihovu povezanost s čimbenicima ponašanja. Buduće studije trebale bi dublje istražiti odnos između ovih čimbenika i elektroničkih uređaja.Introduction: Children and adolescents use computers, cell phones, and tablets, among other electronic devices, daily in non-academic activities. It is essential to characterize the impact these devices have on the socialization, interaction, and learning processes in this population segment. We should also investigate possible harmful effects that may be related to their use. The objective was to characterize how these devices are used and their impact on school performance, behavior, and physical activity in children and adolescents from 6 to 14 years of age. Materials and methods: This is a cross-sectional analytic study of 510 schoolchildren ages 6 to 9 and 10 to 14 from Bogotá and Cundinamarca, Colombia. They were surveyed with a 38-question survey characterizing the use of the devices and the symptoms of anxiety and depression, conflict resolution, sleep, and school performance. Results: The average age for initiation on the use of devices was four years. Cell phones were the most used in both groups (56.3% and 78.04%). Parents monitor the use of the device in 80% of cases. 40% of the time, device usage was greater than 90 minutes per day. About 16% reported sleep disturbance, frustration (48%), emotional lability (20%), and suicidal ideations (11%) also were reported. 19% did not play with their peers, and 7% did not report having close friends. Conclusions: This study shows the high exposure to electronic devices from an early age and their relation to behavioral factors. Future studies should explore the relationship between these factors and electronic devices in depth

Whole-genome sequencing to determine origin of multinational outbreak of Sarocladium kiliense bloodstream infections

We used whole-genome sequence typing (WGST) to investigate an outbreak of Sarocladium kiliense bloodstream infections (BSI) associated with receipt of contaminated antinausea medication among oncology patients in Colombia and Chile during 2013-2014. Twenty-five outbreak isolates (18 from patients and 7 from medication vials) and 11 control isolates unrelated to this outbreak were subjected to WGST to elucidate a source of infection. All outbreak isolates were nearly indistinguishable (≤5 single-nucleotide polymorphisms), and &gt;21,000 single-nucleotide polymorphisms were identified from unrelated control isolates, suggesting a point source for this outbreak. S. kiliense has been previously implicated in healthcare-related infections; however, the lack of available typing methods has precluded the ability to substantiate point sources. WGST for outbreak investigation caused by eukaryotic pathogens without reference genomes or existing genotyping methods enables accurate source identification to guide implementation of appropriate control and prevention measures. © 2016, Centers for Disease Control and Prevention (CDC). All rights reserved

Addressing the welfare needs of farmed lumpfish: knowledge gaps, challenges and solutions

Lumpfish (Cyclopterus lumpus L.) are increasingly being used as cleaner fish to control parasitic sea lice, one of the most important threats to salmon farming. However, lumpfish cannot survive feeding solely on sea lice, and their mortality in salmon net pens can be high, which has welfare, ethical and economic implications. The industry is under increasing pressure to improve the welfare of lumpfish, but little guidance exists on how this can be achieved. We undertook a knowledge gap and prioritisa tion exercise using a Delphi approach with participants from the fish farming sector, animal welfare, academia and regulators to assess consensus on the main challenges and potential solutions for improving lumpfish welfare. Consensus among participants on the utility of 5 behavioural and 12 physical welfare indicators was high (87–89%), reliable (Cronbach's alpha = 0.79, 95CI = 0.69–0.92) and independent of participant background. Participants highlighted fin erosion and body damage as the most use ful and practical operational welfare indicators, and blood parameters and behav ioural indicators as the least practical. Species profiling revealed profound differences between Atlantic salmon and lumpfish in relation to behaviour, habitat preferences, nutritional needs and response to stress, suggesting that applying a common set of welfare standards to both species cohabiting in salmon net-pens may not work well for lumpfish. Our study offers 16 practical solutions for improving the welfare of lumpfish and illustrates the merits of the Delphi approach for achieving consensus among stakeholders on welfare needs, targeting research where is most needed and generating workable solutions.info:eu-repo/semantics/publishedVersio

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

PURPOSE: CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. METHODS: CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained. RESULTS: Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients. CONCLUSION: The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727-736