Maternal health among Venezuelan women migrants at the border of Brazil.

BACKGROUND: Guaranteeing the sexual and reproductive health and rights (SRHR) of populations living in fragile and humanitarian settings is essential and constitutes a basic human right. Compounded by the inherent vulnerabilities of women in crises, substantial complications are directly associated with increased risks of poor SRHR outcomes for displaced populations. The migration of Venezuelans, displaced due to current economic circumstances, is one of the largest in Latin America's history. This study aims to provide an overview of the sexual and reproductive health (SRH) issues affecting migrant Venezuelan women in the state of Roraima, Brazil. METHODS: Face-to-face interviews were conducted from 24 to 30 November 2019. Data collection covered various issues involving access to and use of SRH services by 405 migrant Venezuelan women aged 18-49 years. The Minimum Initial Service Package readiness assessment tools, available from the Inter-Agency Working Group on Reproductive Health in Crises, were used in the data collection. RESULTS: Most commonly, the women reported unmet family planning needs. Of these, a significant proportion reported being unable to obtain contraceptive methods, particularly long-acting reversible contraceptives, either due to the woman's inability to access them or their unavailability at healthcare centres. Although a significant proportion of women were largely satisfied with the attention received at the maternity hospital, both before and during childbirth, 24.0% of pregnant or postpartum women failed to receive any prenatal or postnatal care. CONCLUSION: Meeting the essential SRHR needs of migrant Venezuelan women in Roraima, Brazil is a challenge that has yet to be fully addressed. Given the size of this migrant population, the Brazilian healthcare system has failed to adapt sufficiently to meet their needs; however, problems with healthcare provision are similar for migrants and Brazilian citizens. Efforts need to be encouraged not only in governmental health sectors, but also with academic, non-governmental and international organisations, including a coordinated approach to ensure a comprehensive SRHR response. Given the current high risks associated with the SARS-CoV-2 pandemic, meeting the SRHR needs of migrant populations has become more critical than ever.

DNA methylation reprogramming, TE derepression, and postzygotic isolation of nascent animal species.

The genomic shock hypothesis stipulates that the stress associated with divergent genome admixture can cause transposable element (TE) derepression, which could act as a postzygotic isolation mechanism. TEs affect gene structure, expression patterns, and chromosome organization and may have deleterious consequences when released. For these reasons, they are silenced by heterochromatin formation, which includes DNA methylation. Here, we show that a significant proportion of TEs are differentially methylated between the "dwarf" (limnetic) and the "normal" (benthic) whitefish, two nascent species that diverged some 15,000 generations ago within the Coregonus clupeaformis species complex. Moreover, TEs are overrepresented among loci that were demethylated in hybrids, indicative of their transcriptional derepression. These results are consistent with earlier studies in this system that revealed TE transcriptional derepression causes abnormal embryonic development and death of hybrids. Hence, this supports a role of DNA methylation reprogramming and TE derepression in postzygotic isolation of nascent animal species.

The role of ecotype-environment interactions in intraspecific trophic niche partitioning subsequent to stocking.

Worldwide, stocking of fish represents a valuable tool for conservation and maintenance of species exploited by recreational fishing. Releases of hatchery-reared fish are more and more recognized to have numerous demographic, ecological, and genetic impacts on wild populations. However, consequences on intraspecific trophic relationships have rarely been investigated. In this study, we assessed the impacts of supplementation stocking and resulting introgressive hybridization on the trophic niches occupied by stocked, local, and hybrid lake trout (Salvelinus namaycush) within populations of piscivorous and planktivorous ecotypes stocked from a wild piscivorous source population. We compared trophic niches using stable isotope analysis (δ13 C and δ15 N) and trophic position among the three genetic origins. Putative genetic effects were tested with phenotype-genotype association of "life history" ecological traits (body size, growth rate, condition index, and trophic niche) and genotypes (RADseq SNP markers) using redundant discriminant analysis (RDA). Results showed that sympatry resulting from the stocking of contrasting ecotypes is a risk factor for niche partitioning. Planktivorous populations are more susceptible to niche partitioning, by competitive exclusion of the local fish from a littoral niche to an alternative pelagic/profundal niche. Observed niche partitioning is probably a manifestation of competitive interactions between ecotypes. Our results emphasize that ecotypic variation should be considered for more efficient management and conservation practices and in order to mitigate negative impact of supplementation stocking.

Applying FAIR Principles to Plant Phenotypic Data Management in GnpIS.

GnpIS is a data repository for plant phenomics that stores whole field and greenhouse experimental data including environment measures. It allows long-term access to datasets following the FAIR principles: Findable, Accessible, Interoperable, and Reusable, by using a flexible and original approach. It is based on a generic and ontology driven data model and an innovative software architecture that uncouples data integration, storage, and querying. It takes advantage of international standards including the Crop Ontology, MIAPPE, and the Breeding API. GnpIS allows handling data for a wide range of species and experiment types, including multiannual perennial plants experimental network or annual plant trials with either raw data, i.e., direct measures, or computed traits. It also ensures the integration and the interoperability among phenotyping datasets and with genotyping data. This is achieved through a careful curation and annotation of the key resources conducted in close collaboration with the communities providing data. Our repository follows the Open Science data publication principles by ensuring citability of each dataset. Finally, GnpIS compliance with international standards enables its interoperability with other data repositories hence allowing data links between phenotype and other data types. GnpIS can therefore contribute to emerging international federations of information systems.

Patient-reported dietetic care post hospital for free-living patients: a Canadian Malnutrition Task Force Study.

BACKGROUND: Transitions out of hospital can influence recovery. Ideally, malnourished patients should be followed by someone with nutrition expertise, specifically a dietitian, post discharge from hospital. Predictors of dietetic care post discharge are currently unknown. The present study aimed to determine the patient factors independently associated with 30-days post hospital discharge dietetic care for free-living patients who transitioned to the community. METHODOLOGY: Nine hundred and twenty-two medical or surgical adult patients were recruited in 16 acute care hospitals in eight Canadian provinces on admission. Eligible patients could speak English or French, provide their written consent, were anticipated to have a hospital stay of ≥2 days and were not considered palliative. Telephone interviews were completed with 747 (81%) participants using a standardised questionnaire to determine whether dietetic care occurred post discharge; 544 patients discharged to the community were included in the multivariate analyses, excluding those who were admitted to nursing homes or rehabilitation facilities. Covariates during and post hospitalisation were collected prospectively and used in logistic regression analyses to determine independent patient-level predictors. RESULTS: Dietetic care post discharge was reported by 61/544 (11%) of participants and was associated with severe malnutrition [Subjective Global Assessment category C: odd's ratio (OR) 2.43 (1.23-4.83)], weight loss post discharge [(OR 2.86 (1.45-5.62)], comorbidity [(OR 1.09 (1.02-1.17)] and a dietitian consultation on admission [(OR 3.41 (1.95-5.97)]. CONCLUSIONS: Dietetic care post discharge occurs in few patients, despite the known high prevalence of malnutrition on admission and discharge. Dietetic care in hospital was the most influential predictor of post-hospital care.

Prevalence and predictors of weight change post discharge from hospital: a study of the Canadian Malnutrition Task Force.

BACKGROUND/OBJECTIVES: Little is known about factors associated with weight change post discharge from hospital; yet poor nutritional status in the transition from hospital to community can result in readmission. This exploratory study aimed to determine the factors associated with weight change 30 days post discharge defined as weight gain (WG; 5+ pounds), weight loss (WL; 5+pounds) or weight stable (WS). SUBJECTS/METHODS: A total of 922 medical or surgical patients were recruited from 16 acute care hospitals in 8 Canadian provinces. Telephone interviews were completed with 747 (81%) participants 30 days post discharge using a standardized questionnaire that included: self-reported weight change, assessment of appetite, usage of healthcare services and supports for food-related activities of daily living. Covariates collected during hospitalization, including nutritional status at discharge evaluated by subjective global assessment (SGA), were used in logistic regressions. RESULTS: Among the 747 patients, 26% reported WL, 16.7% had WG and 57.2% were WS. Those with WG were: younger (odds ratio (OR) 0.77 (0.69, 0.85)), male (OR 1.71 (1.12, 2.61)), malnourished at discharge (SGA B OR 2.13 (1.36, 3.33), SGA C OR 2.76 (1.19, 6.62)), and had a good appetite based on the low OR for fair/poor appetite (OR 0.28 (0.11, 0.66)). WL was associated with being on a special diet (OR 1.45 (1.07,1.96)) and reporting fair/poor appetite (OR 2.67 (1.76, 4.07)). CONCLUSIONS: Weight change was relatively common with WL predominating. Several variables were identified to be predictors of WL or weight gain, with appetite being common to both. Future work to further define and confirm these associations is warranted.

Investigating genomic and phenotypic parallelism between piscivorous and planktivorous lake trout (Salvelinus namaycush) ecotypes by means of RADseq and morphometrics analyses.

Repeated adaptive ecological diversification has commonly been reported in fish and has often been associated with trophic niche diversity. The main goal of this study was to investigate the extent of parallelism in the genomic and phenotypic divergence between piscivorous and planktivorous lake trout ecotypes from Laurentian Shield lakes, Canada. This was achieved by documenting the extent of morphological differentiation using geometric morphometrics and linear measurements as well as the pattern of genomic divergence by means of RADseq genotyping (3925 filtered SNPs) in 12 lakes. Our results indicate that the two ecotypes evolved distinct body shape and several linear measurements in parallel. Neutral genetic differentiation was pronounced between all isolated populations (Mean FST  = 0.433), indicating no or very limited migration and pronounced genetic drift. Significant genetic differentiation also suggested partial reproductive isolation between ecotypes in the two lakes where they are found in sympatry. Combining different outlier detection methods, we identified 48 SNPs putatively under divergent selection between ecotypes, among which 10 could be annotated and related to functions such as developmental processes and ionic regulation. Finally, our results indicate that parallel morphological divergence is accompanied by both parallel and nonparallel genomic divergence, which is associated with the use of different trophic niches between ecotypes. The results are also discussed in the context of management and conservation of this highly exploited species throughout northern North America.

Shape plasticity in response to water velocity in the freshwater blenny Salaria fluviatilis.

A non-random association between an environmental factor and a given trait could be explained by directional selection (genetic determinism) and by phenotypic plasticity (environmental determinism). A previous study showed a significant relationship between morphology and water velocity in Salaria fluviatilis that conformed to functional expectations. The objective of this study was to test whether this relationship could be explained by phenotypic plasticity. Salaria fluviatilis from a Corsican stream were placed in four experimental channels with different water velocities (0, 10, 20 and 30 cm s(-1)) to test whether there was a morphological response associated with this environmental factor. After 28 days, fish shape changed in response to water velocity without any significant growth. Fish in higher water velocities exhibited a more slender body shape and longer anal and caudal fins. These results indicate a high degree of morphological plasticity in riverine populations of S. fluviatilis and suggest that the previous relationship between morphology and water velocity observed in the field may largely be due to an environmental determinism.

RAD sequencing reveals within-generation polygenic selection in response to anthropogenic organic and metal contamination in North Atlantic Eels.

Measuring the effects of selection on the genome imposed by human-altered environment is currently a major goal in ecological genomics. Given the polygenic basis of most phenotypic traits, quantitative genetic theory predicts that selection is expected to cause subtle allelic changes among covarying loci rather than pronounced changes at few loci of large effects. The goal of this study was to test for the occurrence of polygenic selection in both North Atlantic eels (European Eel, Anguilla anguilla and American Eel, A. rostrata), using a method that searches for covariation among loci that would discriminate eels from 'control' vs. 'polluted' environments and be associated with specific contaminants acting as putative selective agents. RAD-seq libraries resulted in 23 659 and 14 755 filtered loci for the European and American Eels, respectively. A total of 142 and 141 covarying markers discriminating European and American Eels from 'control' vs. 'polluted' sampling localities were obtained using the Random Forest algorithm. Distance-based redundancy analyses (db-RDAs) were used to assess the relationships between these covarying markers and concentration of 34 contaminants measured for each individual eel. PCB153, 4'4'DDE and selenium were associated with covarying markers for both species, thus pointing to these contaminants as major selective agents in contaminated sites. Gene enrichment analyses suggested that sterol regulation plays an important role in the differential survival of eels in 'polluted' environment. This study illustrates the power of combining methods for detecting signals of polygenic selection and for associating variation of markers with putative selective agents in studies aiming at documenting the dynamics of selection at the genomic level and particularly so in human-altered environments.

Barriers to food intake in acute care hospitals: a report of the Canadian Malnutrition Task Force.

BACKGROUND: Poor food intake is common in acute care patients and can exacerbate or develop into malnutrition, influencing both recovery and outcome. Yet, research on barriers and how they can be alleviated is lacking. The present study aimed to (i) describe the prevalence of food intake barriers in diverse hospitals and (ii) determine whether patient, care or hospital characteristics are associated with the experience of these barriers. METHODS: Patients (n = 890; 87%) completed a validated questionnaire on barriers to food intake, including perceptions of food quality, just before their discharge from a medical or surgical unit in each of 18 hospitals across Canada. Scores were created for barrier domains. Associations between these barriers and selected patient characteristics collected at admission or throughout the hospital stay and site characteristics were determined using bivariate analyses. RESULTS: Common barriers were being interrupted at meals (41.8%), not being given food when a meal was missed (69.2%), not wanting ordered food (58%), loss of appetite (63.9%) and feeling too sick (42.7%) or tired (41.1%) to eat. Younger patients were more likely (P < 0.0001) to report being disturbed at meals (44.6%) than older patients (33.9%) and missing a meal for tests (39.0% versus 31.0%, P < 0.05). Patients who were malnourished, women, those with more comorbidity, and those who ate <50% of the meal reported several barriers across domains. CONCLUSIONS: The present study confirms that barriers to food intake are common in acute care hospitals. This analysis also identifies that specific patient subgroups are more likely to experience food intake barriers. Because self-reported low food intake in hospital was associated with several barriers, it is relevant to consider assessing, intervening and monitoring barriers to food intake during the hospital stay.

Validity and reliability of the new Canadian Nutrition Screening Tool in the 'real-world' hospital setting.

BACKGROUND/OBJECTIVES: Nutrition screening should be initiated on hospital admission by non-dietitians. This research aimed to validate and assess the reliability of the Canadian Nutrition Screening Tool (CNST) in the 'real-world' hospital setting. SUBJECTS/METHODS: Adult patients were admitted to surgical and medical wards only (no palliative patients). Study 1--Nutrition Care in Canadian Hospitals (n=1014): development of the CNST (3 items: weight loss, decrease food intake, body mass index (BMI)) and exploratory assessment of its criterion and predictive validity. Study 2--Inter-rater reliability and criterion validity assessment of the tool completed by untrained nursing personnel or diet technician (DT) (n=150). Subjective Global Assessment performed by site coordinators was used as a gold standard for comparison. RESULTS: Study 1: The CNST completed by site coordinators showed good sensitivity (91.7%) and specificity (74.8%). Study 2: In the subsample of untrained personnel (160 nurses; one DT), tool's reliability was excellent (Kappa=0.88), sensitivity was good (>90%) but specificity was low (47.8%). However, using a two-item ('yes' on both weight change and food intake) version of the tool improved the specificity (85.9%). BMI was thus removed to promote feasibility. The final two-item tool (study 1 sample) has a good predictive validity: length of stay (P<0.001), 30-day readmission (P=0.02; X(2) 5.92) and mortality (P<0.001). CONCLUSIONS: The simple and reliable CNST shows good sensitivity and specificity and significantly predicts adverse outcomes. Completion by several untrained nursing personnel confirms its utility in the nursing admission assessment.

Spatial heterogeneity in the Mediterranean Biodiversity Hotspot affects barcoding accuracy of its freshwater fishes.

Incomplete knowledge of biodiversity remains a stumbling block for conservation planning and even occurs within globally important Biodiversity Hotspots (BH). Although technical advances have boosted the power of molecular biodiversity assessments, the link between DNA sequences and species and the analytics to discriminate entities remain crucial. Here, we present an analysis of the first DNA barcode library for the freshwater fish fauna of the Mediterranean BH (526 spp.), with virtually complete species coverage (498 spp., 98% extant species). In order to build an identification system supporting conservation, we compared species determination by taxonomists to multiple clustering analyses of DNA barcodes for 3165 specimens. The congruence of barcode clusters with morphological determination was strongly dependent on the method of cluster delineation, but was highest with the general mixed Yule-coalescent (GMYC) model-based approach (83% of all species recovered as GMYC entity). Overall, genetic morphological discontinuities suggest the existence of up to 64 previously unrecognized candidate species. We found reduced identification accuracy when using the entire DNA-barcode database, compared with analyses on databases for individual river catchments. This scale effect has important implications for barcoding assessments and suggests that fairly simple identification pipelines provide sufficient resolution in local applications. We calculated Evolutionarily Distinct and Globally Endangered scores in order to identify candidate species for conservation priority and argue that the evolutionary content of barcode data can be used to detect priority species for future IUCN assessments. We show that large-scale barcoding inventories of complex biotas are feasible and contribute directly to the evaluation of conservation priorities.

Percutaneous neuromodulation of the posterior tibial nerve for the treatment of faecal incontinence - mid-term results: is retreatment required?

AIM: Posterior tibial nerve stimulation (PTNS) has emerged in recent years as a therapy for faecal incontinence. Its long-term effectiveness is yet to be established, along with what the form of retreatment should be in the event of loss of effectiveness. The present study aimed to establish the mid-term results to identify the proportion of patients who may need further treatment, and if so when. METHOD: A prospective study including 30 patients was conducted at an academic hospital. The patients underwent 12 weekly outpatient treatment sessions, each lasting 30 min (first PTNS phase). Neuromodulation was discontinued in those patients who did not have a 40% decrease in their pretreatment Wexner score. Patients having a better than 40% response were offered another 12-week course of complete treatment (second PTNS phase), following which they received no further PTNS treatment (phase without PTNS) but were assessed at 6 months and 2 years. RESULTS: All patients finished the first phase and 22/30 patients continued to the second phase. During this phase 11 patients showed an improved Wexner score (baseline/first phase/second phase: 14.3 ± 4.2 vs 9.9 ± 5.4 vs 6.8 ± 5.4). After a 6-month period without any treatment, the score was still improved in 11/30 patients (9.1 ± 6.2). At 2 years there was improvement in 16/30 patients (8.8 ± 7.1). There was a significant improvement in three variables of the quality of life questionnaire: lifestyle, coping behaviour and embarrassment. CONCLUSION: The response to first and second phase PTNS was maintained for up to 2 years. Retreatment was not required in about half of patients, even when they had finished the treatment 6 months or 2 years previously.

Providing quality nutrition care in acute care hospitals: perspectives of nutrition care personnel.

BACKGROUND: Malnutrition is common in acute care hospitals worldwide and nutritional status can deteriorate during hospitalisation. The aim of the present qualitative study was to identify enablers and challenges and, specifically, the activities, processes and resources, from the perspective of nutrition care personnel, required to provide quality nutrition care. METHODS: Eight hospitals participating in the Nutrition Care in Canadian Hospitals study provided focus group data (n = 8 focus groups; 91 participants; dietitians, dietetic interns, diet technicians and menu clerks), which were analysed thematically. RESULTS: Five themes emerged from the data: (i) developing a nutrition culture, where nutrition practice is considered important to recovery of patients and teams work together to achieve nutrition goals; (ii) using effective tools, such as screening, evidence-based protocols, quality, timely and accurate patient information, and appropriate and quality food; (iii) creating effective systems to support delivery of care, such as communications, food production and delivery; (iv) being responsive to care needs, via flexible food systems, appropriate menus and meal supplements, up to date clinical care and including patient and family in the care processes; and (v) uniting the right person with the right task, by delineating roles, training staff, providing sufficient time to undertake these important tasks and holding staff accountable for their care. CONCLUSIONS: The findings of the present study are consistent with other work and provide guidance towards improving the nutrition culture in hospitals. Further empirical work on how to support successful implementation of nutrition care processes is needed.

[Perilunate dislocations and fracture-dislocations of the wrist, a review of 17 cases]. / Luxations et fractures-luxations périlunaires du carpe, étude rétrospective d'une série de 17 cas.

INTRODUCTION: The authors present the results of a retrospective series of 17 cases of dislocations or perilunate fracture-dislocations of the carpus, treated in emergency (period of less than 7 days). The objective aim of our study was to evaluate the radioclinical fate prognosis of these lesions pathologies and their social commitment impact. PATIENTS AND METHODS: It is a retrospective study covering the period from July 2004 to December 2009 (or 54 months). Were included in the study, patients hospitalised for a pure dislocation or a perilunate fracture-dislocation authenticated confirmed by an x-ray postero-anterior and lateral views were included. The series included 15 men and two women, nine manual workers, with an average age of 38.9 years. Based on Herzberg radiological classification, the series included six pure perilunate dislocations (35%) and 11 fracture-dislocations (59%) including seven forms trans-scapho-perilunate and four fractures of the lower end of radius. On the profile x-ray, 16 of the lesions were posterior displacement, including 12 stages I lesions (lunatum in place under the radius), and four stage II (lunatum dislocated in front of the radius). A patient had an anterior dislocation stage II, associated with a radial styloid fracture. All patients were operated using surgical treatment, percutaneous, either open pit, or open approaches combining with broaching scapholunate, scaphocapitate and triquetrolunate pinning. Then, an immobilization for 6 weeks was put in place and was performed using a forearm cast. Rehabilitation began as early as the removal of osteosynthesis was done at pin removal. RESULTS: The average decline follow-up in the series was 26 months. The mean score of Cooney was 63/100. There were two excellent results, two good results, seven middle moderate results, and six bad results. The average Quick-DASH score was 24.6/55 and the PRWE 41/150. The average duration of the work stoppage leave was 8 months, including one retired. The average of flexion-extension arc of the traumatized side was 77% (101°) in comparison to the healthy side. The average strength of the traumatized side was 71% (34kg) in comparison with the healthy side. The average radial-ulnar tilt arc of the traumatized side was 67% (37°) in comparison with the healthy side. DISCUSSION: There is no formal radioclinical prognostic in the radioclinic correlation. However, it seems to emerge that the timing and the type of support treatment bear the most important prognostic guarantors of a better result factors. Perilunate fracture-dislocations have major arthrogeneous arthrogenic potential, yet with a despite functional outcome consistent allowing resumption of recovery of past previous activities. It would seem that perilunate fracture-dislocations have a better functional outcome than those of pure dislocations. Thus, this work is the beginning of a long-term study, including a larger number of patients.

[Interest of immunohistochemic markers (Ki67, HMB45, p53) in risk analysis of congenital naevi of little and middle size]. / Intérêt des marqueurs immunohistochimiques (Ki67, HMB45, p53) dans l'analyse de risque des naevi congénitaux de petite et moyenne taille.

The risk to develop melanoma from small or medium size congenital naevus remain controversial. The main goal of the present study was to determine the interest of three immunohistochemical markers (Ki67, HMB45 and p53) in predicting malignant transformation of these congenital naevi and to see if a specific immunohistochemical profile of such transformed naevi can be identified. The markers (Ki67, HMB45 and p53) have been used retrospectively on sections of small or medium size congenital naevi (group NC, n = 15), of melanoma developed on small or medium size congenital naevi (group MNC, n = 15) and of melanoma developed on acquired naevi (group MNA, n = 15). The labelled cells have been counted in different cutaneous layers: junction, superficial dermal layer and deep dermal layer. No reactivity was observed for the three markers in group NC. The percentage of labelled cells was significantly different for the three markers between the group NC and the groups MNC and MNA. There was no difference between the groups MNC and MNA. In the groups MNC and MNA, a gradient in the percentage of labelled cells was observed between superficial and deep layers. These three markers do not differentiate melanoma developed from congenital naevi of small or medium size and melanoma developed from acquired naevi. Moreover, the results suggest that these three markers are useless in predicting the risk of malignant transformation of small or medium size congenital naevi.

CDKN2A mutations in melanoma families from Uruguay.

BACKGROUND: Familial melanoma, a cluster of several cases within a single family, accounts for approximately 10% of cases of melanoma. Hereditary melanoma is defined as two or more first-degree relatives having melanoma. A member of a melanoma-prone family has a 35-70-fold increased relative risk of developing a melanoma. Genetic susceptibility is linked to the major susceptibility genes CDKN2A and CDK4, and the minor susceptibility gene MC1R. OBJECTIVES: To determine the clinical and genetic characteristics of cutaneous melanoma in melanoma-prone families from Uruguay. METHODS: We studied 13 individuals from six melanoma-prone families living in Uruguay. Phenotype, familial and personal history were recorded. Molecular screening of CDKN2A and CDK4 was done by polymerase chain reaction-single strand conformational polymorphism analysis. The MC1R gene was sequenced. RESULTS: Mutations in CDKN2A were detected in five of six families: c.-34G>T, p.G101W and p.E88X. A novel germline mutation p.E88X, associated with hereditary melanoma in two unrelated families, is described. We hypothesize that a founder effect occurred probably in the Mediterranean region. No mutations in CDK4 were detected. Six different MC1R variants, all previously reported, were present in Uruguayan families. CONCLUSIONS: The overall rate of deleterious CDKN2A mutations in our familial melanoma pedigrees, even though the sample size is small, was considerably higher (83%) than the often quoted range.