South American Family Research Articles

Influence and presumption of the vaccine against Covid-19 in South American families.

Faced with the uncertainty of whether the vaccines against Covid-19 are effective or not and faced with living or dying, it is important to know the perception and expectation of their acceptance. The main aim of the study to analyze the perception and expectation of the vaccine against Covid- 19 that South American families have in an urban area of De Pasco. Descriptive, cross-sectional study, simple random sampling of 197 families. The participants were recruited digitally through a neighborhood leadership and an online survey was applied with prior consent. The logistic regression analysis was performed in EPIDAT 4.1 with a significance level of 5%. Regarding the desire to be vaccinated, it is worth noting that a family member died from the coronavirus, hence the health personnel must continue with the preventive promotional work of vaccination in order to obtain favorable results in the entire population. The majority (100%) have a favorable perception and expectation about the vaccine against Covid- 19 ( X c 2 =132.83) and the p-value (0.00); As regards the desire to be vaccinated, it is worth noting having had a family member die from the coronavirus, hence the health personnel must continue with the preventive promotional work of vaccination in order to obtain favorable results in the entire population.

Spinocerebellar ataxia type 2 has multiple ancestral origins

IntroductionSpinocerebellar ataxia type 2 (SCA2) is a dominant neurodegenerative disorder due to expansions of a CAG repeat tract (CAGexp) at the ATXN2 gene. Previous studies found only one ancestral haplotype worldwide, with a C allele at rs695871. This homogeneity was unexpected, given the severe anticipations related to SCA2. We aimed to describe informative ancestral haplotypes found in South American SCA2 families. MethodsSeventy-seven SCA2 index cases were recruited from Brazil, Peru, and Uruguay; 263 normal chromosomes were used as controls. The SNPs rs9300319, rs3809274, rs695871, rs1236900 and rs593226, and the STRs D12S1329, D12S1333, D12S1672 and D12S1332, were used to reconstruct haplotypes. ResultsEleven ancestral haplotypes were found in SCA2 families. The most frequent ones were A-G-C-C-C (46.7 % of families), G-C-C-C-C (24.6 %) and A-C-C-C-C (10.3 %) and their mean (sd) CAGexp were 41.68 (3.55), 40.42 (4.11) and 45.67 (9.70) (p = 0.055), respectively. In contrast, the mean (sd) CAG lengths at normal alleles grouped per haplotypes G-C-G-A-T, A-G-C-C-C and G-C-C-C-C were 22.97 (3.93), 23.85 (3.59), and 30.81 (4.27) (p < 0.001), respectively. The other SCA2 haplotypes were rare: among them, a G-C-G-A-T lineage was found, evidencing a G allele in rs695871. ConclusionWe identified several distinct ancestral haplotypes in SCA2 families, including an unexpected lineage with a G allele at rs695871, a variation never found in hundreds of SCA2 patients studied worldwide. SCA2 has multiple origins in South America, and more studies should be done in other regions of the world.

Buen Crédito y Buen Seguro: Legal Status and Restricted Access to Shelter among Low-Income Latina/o Renters in an Immigrant Gateway City

AbstractSociologists have shown how searches for rental housing reproduce inequalities by race/ethnicity and household income in the United States. Yet scholars know comparatively less about how legal status may also limit access to shelter. To address this gap, this article compares the housing careers of 30 low-income, undocumented/mixed-status, Mexican, Central American, and South American families with those of ten low-income, predominantly Mexican, U.S. citizen/LPR families across 103 total moves in Los Angeles, California. Though citizen and undocumented renters moved for similar reasons, the process of finding a new home varied substantially across these two groups. Renters’ legal status became salient during the screening portion of rental applications, which requested a credit and background check, a verifiable income, and banking information for each household adult. As a result, undocumented renters were excluded from most formal rentals. Instead, these families searched for sympathetic managers or doubled up with friends, family members, and non-kin. Despite these barriers, undocumented and mixed-status families achieved greater housing security over time by transitioning from guests to hosts in doubled up homes. These findings extend prior research on how housing searches stratify movers, the housing careers of Latino immigrant families, and the punitive consequences of illegality.

Evolution of flower morphology and a natural re‐arrangement of Calyceraceae

AbstractCalyceraceae is a small South American family sister to Asteraceae. Previous phylogenetic analyses revealed that Calyceraceae genera are para‐ or polyphyletic. Fruit and inflorescence characters used historically as diagnostic in Calyceraceae taxonomy have proven unreliable in defining natural groups. Surprisingly, flower morphology does not appear in diagnoses of Calyceraceae genera, and its diversity and evolution has remained unstudied before now. Based on phylogenetic analyses using six molecular markers and an almost complete sampling of the family (43 of 46 species), we propose a taxonomic re‐arrangement of Calyceraceae. In the search for diagnostic morphological characters, we studied flower structure diversity and optimized 12 discrete characters by maximum parsimony and maximum likelihood to reconstruct floral evolution in the family. Calyceraceae species are arranged in eight genera (three monotypic, five with 6 to 13 species). Two genera are new (Anachoretes, Asynthema), one is reinstated (Leucocera), with the remaining five emended (Acicarpha, Boopis, Calycera, Gamocarpha, Moschopsis). Flower morphology is notably diverse but provides only a few diagnostic features. Many floral attributes likely reflect selection for pollination or fruit dispersal rather than phylogenetic affinity. In the context of this taxonomic revision, we include a key to genera, new and emended diagnoses, and new combinations.

Three cultural contrasts in search of specificities and commonalities: Acculturation in Japanese, South American, and South Korean immigrant families

Three cultural comparisons address specificities and commonalities in the acculturation of infant behaviors and maternal parenting practices. Immigrant Japanese, Korean, and South American families were compared to nonmigrant families in their respective cultures of origin (Japan, South Korea, and South America) and their single common culture of destination (United States). Altogether, 13 infant behaviors and 15 maternal parenting practices in 408 5½-month-old infants and their mothers were examined. About half of infants' and half of mothers' behaviors showed specificity and half commonality in group-level acculturation comparisons. Immigrant infants differed from infants in their cultures of origin and destination with respect to emotional expression, vocalization, and physical development. Immigrant mothers differed from mothers in their cultures of origin and destination in speech to their infants, permitted sounds in the environment, and encouraging infants' physical development. Implications of specificity and commonality in acculturation of infant and mother behaviors across groups are discussed.

The Classification of South American Languages

With some 108 independent genealogical units, South America is the linguistically most diverse region of our planet and presents a particular challenge to linguists seeking to understand the genealogical relationships among human languages. Recent years have seen a resurgence of interest in the internal classification of South American language families, and this article provides a critical overview of research in this very active area, focusing on the seven largest language families of the continent: Arawakan, Cariban, Jê, Panoan, Quechuan, Tukanoan, and Tupian. The strengths and weaknesses of major classification proposals are examined, and directions for future research discussed. Several long-distance relationship proposals that South Americanists are actively debating, including Tupi-Cariban, Pano-Takanan, Quechumaran, TuKaJê, and Macro-Jê, are also examined.

A novel epidermal gland type in lizards (α-gland): structural organization, histochemistry, protein profile and phylogenetic origins

AbstractChemical signalling is an essential component of the communication system of lizards, and epidermal glands are responsible for producing semiochemicals that regulate many behavioural interactions. Two types of epidermal glands have been previously described for lizards: follicular and generation glands. Generation glands are characterized by the aggregation of novel glandular cell types in the epithelium and the lack of a lumen or external pore. Despite the fact that several subtypes of generation glands have been recognized over the years, the morphology, taxonomic distribution, function and evolutionary origins of generation glands remain nearly unexplored in Neotropical clades. Here, we describe a novel escutcheon-type generation gland (‘α-gland’) for lizards of the South American family Tropiduridae, characterize its structural and ultrastructural organization, and study the homology of the constituent parts in a phylogenetic framework. The α-glands emerged in the ancestor of Eurolophosaurus, Plica, Strobilurus, Tropidurus and Uracentron, and are found in at least 39 species with diverse ecological habits. We preliminarily analysed the protein profile of α-glands and discovered differential expression of protein components between sexes. Our investigations change the general view about epidermal gland homology, leading us to argue that generation and follicular glands are possibly more closely related functionally and evolutionarily than previously thought.

The first European representative of the South American family Xenopteraidae (Insecta: Megasecoptera) discovered in the Guadalupian of Lodève (France)

NEL, A., LAPEYRIE, J. & GARROUSTE, R. May 6 2019. The first European representative of the South American family Xenopteraidae (Insecta: Megasecoptera) discovered in the Guadalupian of Lodève (France). Alcheringa 43, 436–440. ISSN 0311-5518.A new genus, Sinitshenkovae gen. nov., is described, comprising the Carboniferous species Sinitshenkovae hueneckeni (Pinto & Pinto de Ornellas, 1978) comb. nov. from South America and new Guadalupian species S. gallica sp. nov. from France. These two species are attributed to the Paleozoic South American family Xenopteraidae, a previously monospecific family only containing Xenoptera riojaensis Pinto, 1986. Sinitshenkovae gallica sp. nov. is therefore the youngest representative of this family and the only record outside South America, which suggests that our current knowledge of the palaeobiogeography of Permian and Carboniferous insects remains incomplete.André Nel [anel@mnhn.fr] and Romain Garrouste [garroust@mnhn.fr], Institut Systématique Evolution Biodiversité (ISYEB), Muséum national d’Histoire naturelle, CNRS, Sorbonne Université, EPHE, 57 rue Cuvier, CP 50, 75005 Paris, France; Jean Lapeyrie [jean.lapeyrie@orange.fr], Corniche de Fontbonne, F-34700 Lodève, France.

Cytogenetics, genomics and biodiversity of the South American and African Arapaimidae fish family (Teleostei, Osteoglossiformes).

Osteoglossiformes represents one of the most ancestral teleost lineages, currently widespread over almost all continents, except for Antarctica. However, data involving advanced molecular cytogenetics or comparative genomics are yet largely limited for this fish group. Therefore, the present investigations focus on the osteoglossiform family Arapaimidae, studying a unique fish model group with advanced molecular cytogenetic genomic tools. The aim is to better explore and clarify certain events and factors that had impact on evolutionary history of this fish group. For that, both South American and African representatives of Arapaimidae, namely Arapaima gigas and Heterotis niloticus, were examined. Both species differed markedly by diploid chromosome numbers, with 2n = 56 found in A. gigas and 2n = 40 exhibited by H. niloticus. Conventional cytogenetics along with fluorescence in situ hybridization revealed some general trends shared by most osteoglossiform species analyzed thus far, such as the presence of only one chromosome pair bearing 18S and 5S rDNA sites and karyotypes dominated by acrocentric chromosomes, resembling thus the patterns of hypothetical ancestral teleost karyotype. Furthermore, the genomes of A. gigas and H. niloticus display remarkable divergence in terms of repetitive DNA content and distribution, as revealed by comparative genomic hybridization (CGH). On the other hand, genomic diversity of single copy sequences studied through principal component analyses (PCA) based on SNP alleles genotyped by the DArT seq procedure demonstrated a very low genetic distance between the South American and African Arapaimidae species; this pattern contrasts sharply with the scenario found in other osteoglossiform species. Underlying evolutionary mechanisms potentially explaining the obtained data have been suggested and discussed.

Nominal classification in Karirí

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Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports

BackgroundThe myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The p.Ser113Leu mutation is the most frequent in the European population. Only lower-leg magnetic resonance imaging findings have been reported, with gluteus maximus involvement in one case and normal imaging in other patients.Case presentationTwo Native South American siblings, a boy and a girl, presented to our neuromuscular clinic with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. During episodes, their creatine kinase concentrations were markedly increased, up to 148,000 (1.48 × 105) IU/L in the boy and 18,000 (1.8 × 104) IU/L in the girl. The results of electroneuromyography and histopathology suggested a nonspecific myopathy. CPT2 gene sequencing showed two heterozygous mutations: the p.Ser113Leu variant and a novel one (predicted to be deleterious by in silico analysis), the p.Ser373Pro variant. The patients’ parents were asymptomatic carriers. Whole-body magnetic resonance imaging showed mild selective involvement in the thoracic extensors and pelvic girdle in both siblings, and in the thighs and lower legs in one of them. Dietary and bezafibrate treatment was started, and symptomatic relief was observed.ConclusionsTo the best of our knowledge, this is the first reported Native South American family with a CPT2 deficiency carrying a novel mutation and particular features visualized by whole-body magnetic resonance imaging.

Taxonomic review of the “Bulimes”, terrestrial gastropods from the continental Eocene of the Hamada de Méridja (northwestern Sahara, Algeria) (Mollusca: Stylommatophora: Strophocheilidae?), with a discussion of the genera of the family Vidaliellidae

Terrestrial gastropods occur in many North African localities in Eocene continental deposits. Here we analyse the faunal assemblage from the Hamada de Meridja Formation in southwestern Algeria, dated as Early to Middle Eocene on the basis of charophytes. The assemblage consists of three closely related species that to date have been classified either in the extant Madagascan genus Leucotaenius v. Martens, 1860, or in the SW European Eocene genera Romanella Jodot, 1957 and Vicentinia Jodot, 1957. This is rejected for shell morphological and phylogeographical reasons, and a new classification as Maghrebiola gen. nov. is proposed. Maghrebiola is tentatively placed in the South American family Strophocheilidae, as species from the Early Eocene Itaborai Basin of Brazil, currently placed in the genus Eoborus Klappenbach and Olazarri, 1970 in the family Strophocheilidae, superfamily Acavoidea, have a very similar shell habitus. This record possibly extends the known geographical range of the Strophocheilidae into the African continent during the Eocene. Immigration of this stock into North Africa during the Cretaceous via a still existing plate connection is assumed. An attribution of Maghrebiola to the African family Achatinidae is unlikely for shell morphological reasons despite certain habitus similarities, although the Priabonian genera Arabicolaria and Pacaudiella from Oman most likely belong into this family, and not to the Vidaliellidae as originally proposed. Possible causes for the very low diversity of the assemblage are mainly unfavourable living conditions, i.e. a relatively dry climate resulting in sparse vegetation and only occasional presence of water bodies, which may have had increased salinities, accounting for the lack of freshwater mollusks. The absence of any competing large gastropods may possibly have facilitated high intraspecific variability leading to sympatric occurrence of three closely related species, due to the animals occupying a wide range of available ecological niches. As the species discussed here have also been attributed to the genera Romanella and Vicentinia in the Vidaliellidae, we provide an appendix with annotated characterisations of most genera of the Vidaliellidae and list the nominal species assigned to them. This family is tentatively placed in the South American superfamily Orthalicoidea; its stock would have similarly immigrated from South America, but have successfully colonized mainly SW Europe, with only one Eocene species [Romanella kantarensis (Jodot, 1936)] recognized in Algeria.

MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

Heredity is a major risk factor for colorectal cancer (CRC). Identification of individuals and families at increased risk allows for targeted surveillance, which has been shown to reduce morbidity and mortality from CRC (1, 2). Lynch syndrome is a multi-tumor syndrome with particularly high risks for colorectal, endometrial, and ovarian cancer (3–6). The syndrome is caused by germline DNA-mismatch repair (MMR) gene mutations with major contributions from MLH1 (MIM#120436) (42%), MSH2 (MIM#609309) (33%), MSH6 (MIM#600678) (18%), and PMS2 (MIM#600259) (8%). Only about one-third of the Lynch syndrome families fulfill the Amsterdam criteria (AC) (7–9). The cumulative incidence of any cancer at 70 years of age is 72% for MLH1 and MSH2 mutation carriers but lower in MSH6 (52%) and PMS2 (18%) mutation carriers. MSH6 and PMS2 carriers developed no cancers before 40 years of age (10). Mutation screening in a relatively large proportion of South American families with suspected Lynch syndrome has recently identified 99 disease-predisposing mutations in MLH1 and MSH2, which mutation spectrum is predominated by MLH1 (60%) and MSH2 (40%). Among the reported mutations, genetic hot-spot regions, new and potential founder mutations have been described in the South American population (11, 12). Several genome-wide association studies have identified single nucleotide polymorphisms (SNPs) in at least 15 independent loci associated with CRC risk (odds ratio ranging from 1.10 to 1.26 per risk allele) (13–15). Although there is no evidence that these SNPs associated with CRC in the general population are modifiers of the risk for MMR gene mutation carriers overall and therefore any evidence of proven clinical utility in Lynch syndrome (16). The MLH1 Ile219Val (rs1799977) is a common germline alteration, located in exon 8 at the nucleotide 655. This polymorphism has been described in a high frequency of the South American Lynch syndrome population, but no modifier effect of CRC risk and MMR disease-predisposing mutation carriers was observed (17). However, it has been reported to confer a twofold-increased risk of CRC development in sporadic Mexican patients (18). Other conditions that have been associated with this polymorphism include childhood acute lymphoblastic leukemia, breast cancer, radiation-induced rectal or bladder toxicity, and ulcerative colitis (19–23). It is unknown whether the MLH1 Ile219Val polymorphism has an effect on cancer risk and in the MMR capacity in Argentinean families with suspected Lynch syndrome. Thus, we aim to determine its frequency, its correlation with disease-predisposing MMR gene mutations, and to delineate the clinical characteristics from these families.

The fossil record of lissamphibians from Africa, Madagascar, and the Arabian Plate

Lissamphibians (frogs, salamanders, caecilians, and the extinct Albanerpetontidae) have a near global distribution. Africa, its associated islands (especially Madagascar and the Seychelles) and the Arabian Plate are home to about 27 families (including 15 endemic) and 1135 species of extant lissamphibians or about 38 and 15 %, respectively, of the global totals. The region also contains an extensive, but patchy and somewhat under-appreciated fossil record. Based on published and unpublished information, we provide here the most comprehensive review to date of the lissamphibian fossil record from the region. We also discuss the insights those occurrences provide into past distributions and diversities of lissamphibians in the region and the establishment of the modern fauna. Our review relies on occurrence data from 93 sets of localities of basal Triassic through Holocene age, distributed across 23 countries. As with the modern lissamphibian fauna of the region, the fossil record is dominated by frogs, but there also are notable occurrences of other lissamphibians, including several genera of enigmatic Cretaceous salamanders, one of two known stem caecilians, and the only Gondwanan records for albanerpetontids. Africa is one of only two continents (the other being North America) to have occurrences for all four lissamphibian clades. Twenty named and currently accepted fossil lissamphibian species are recognised from the region: one stem and 14 crown frogs (11 or possibly 12 of which are pipimorphs, 1 alytid, and 1 neobatrachian possibly referable to the otherwise exclusively South American families Ceratophryidae or Calyptocephalellidae); three salamanders; one stem caecilian; and one albanerpetontid. Additional and as yet unnamed taxa are represented in existing collections, and others undoubtedly remain to be discovered. Of the 27 extant lissamphibian families currently recognised from the region, 12 of 22 frog families (including five endemics: Brevicipitidae, Heleophrynidae, Hyperoliidae, Ptychadenidae, and Pyxicephalidae) and the sole salamander family (Salamandridae) have fossil records; at present, none of the known caecilian fossils can be assigned with confidence to any of the four extant families currently recognised in the region. The biogeographic histories of lissamphibians in Africa, its associated islands and the Arabian Plate are characterised by vicariant and dispersal events related to the complex palaeogeographic history of the region.

Mutation spectrum in South American Lynch syndrome families

BackgroundGenetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system.MethodsWe compiled data from publications and hereditary cancer registries to characterize the Lynch syndrome mutation spectrum in South America. In total, data from 267 families that fulfilled the Amsterdam criteria and/or the Bethesda guidelines from Argentina, Brazil, Chile, Colombia and Uruguay were included.ResultsDisease-predisposing mutations were identified in 37% of the families and affected MLH1 in 60% and MSH2 in 40%. Half of the mutations have not previously been reported and potential founder effects were identified in Brazil and in Colombia.ConclusionThe South American Lynch syndrome mutation spectrum includes multiple new mutations, identifies potential founder effects and is useful for future development of genetic testing in this continent.

A revision of loasoid &lt;i&gt;Caiophora&lt;/i&gt; (&lt;i&gt;Caiophora pterosperma&lt;/i&gt;-group, Loasoideae, Loasaceae) from Peru

Caiophora is a taxonomically difficult, nearly exclusively Andean genus of the largely South American family Loasaceae subfam. Loasoideae. Elevational distribution and flower morphology argue for a relatively basal position of loasoid Caiophora in the genus. Caiophora has not been revised since 1900, and details of their morphology, distribution and species delimitation are incompletely understood. The Caiophora pterosperma-group clearly belongs to Caiophora based on habit, fruit morphology, karyology and molecular data, but is florally similar to members of the closely allied genera Loasa and Scyphanthus. The Peruvian members of the Caiophora pterosperma-group are here revised. Three species are recognized: C. pterosperma, endemic to the departments of Junín and Pasco (including C. smithii, C. serropetala and C. pavonii), C. stenocarpa from the departments Cuzco and Huancavelica, and the new species Caiophora dederichiorum, endemic to the department of Ancash. All three species occur at low elevations for the genus (down to 2200 m a.s.l.) and in seasonally dry habitats, unlike most representatives of the genus (usually found in mesic habitats at higher elevations). A key to the Peruvian members of the group, diagnoses, drawings and photographs are provided for all species recognized.

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family

Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP.

Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families

Familial hyperaldosteronism type II is a hereditary form of primary aldosteronism not attributable to the hybrid CYP11B1/CYP11B2 mutation that causes glucocorticoid remediable aldosteronism (or familial hyperaldosteronism type I). Although genetic defect(s) underlying familial hyperaldosteronism type II have not yet been elucidated, linkage to chromosome 7p22 was previously reported in two Australian families and a South American family with familial hyperaldosteronism type II. To seek evidence of linkage to chromosome 7p22 in two Italian families with familial hyperaldosteronism type II based on markers that have already yielded evidence of linkage in one South American and two Australian familial hyperaldosteronism type II families and to assess the combined multipoint logarithm of odds score in these five families (two Australian, two Italian, and one South American). Primary aldosteronism was diagnosed or excluded using widely accepted clinical and biochemical criteria. Genotypes of affected and unaffected Italian patients from two families were analysed using seven closely spaced microsatellite markers at 7p22, and multipoint logarithm of odds scores were calculated to assess linkage with familial hyperaldosteronism type II. All known affected individuals (four and two, respectively) from each of two Italian families shared identical haplotypes for the seven markers, consistent with linkage of the disease locus with the 7p22 region. The combined multipoint logarithm of odds score for five families showing linkage at 7p22 was highly significant at 5.22 (theta = 0) for markers D7S462 and D7S517. Linkage in two Italian families makes this the third geographical area to show linkage of familial hyperaldosteronism type II at 7p22, emphasizing the likely importance of this locus in identifying the causative mutation.

A New Form of Hereditary Primary Aldosteronism: Familial Hyperaldosteronism Type III

Primary aldosteronism (PA) is the most frequent form of secondary hypertension accounting for up to 5–10% of all hypertensive patients (1–3). The diagnosis of this form of hypertension is fundamental because, compared with essential hypertensives with similar risk profiles, patients with PA are more prone to stroke, myocardial infarction, and atrial fibrillation (4) and display an increase in cardiovascular damage and metabolic complications (5). Two familial forms of primary aldosteronism [familial hyperaldosteronism (FH)] have been described so far, referred to as FH-I, also known as glucocorticoid-remediable aldosteronism (GRA), and FH-II (5–7). In this issue of the Journal, Geller et al. (8) report a newly described Mendelian form of familial hyperaldosteronism with distinctive clinical and biochemical features from previously described forms. FH-I/GRA is transmitted as an autosomal dominant disease and is characterized by hypertension, elevated ACTH-dependent aldosterone secretion, renin suppression, and high levels of the hybrid steroids, 18OHcortisol (18OHF) and 18oxo-cortisol (18oxoF). Despite the state of hyperaldosteronism, hypokalemia is uncommon (7, 9). The genetic defect leading to FH-I/GRA is an unequal genetic recombination between CYP11B1 (11 -hydroxylase) and CYP11B2 (aldosterone synthase), generating a chimeric CYP11B gene containing CYP11B1 sequences (including the promoter) at its 5 end and CYP11B2 sequences at its 3 end (7, 9). Because CYP11B1 expression is regulated by ACTH, the hybrid gene encodes a chimeric enzyme with aldosterone synthase activity and ACTH-dependent expression throughout the adrenal cortex. Hence, in FH-I/GRA patients, aldosterone levels are persistently suppressed by glucocorticoid administration. Most affected individuals develop severe hypertension in early life, but patients with mild hypertension or blood pressure in the normal range are described in many families, some of them displaying a notably milder clinical phenotype (10, 11). FH-II is a nonglucocorticoid remediable familial form of PA (6). Patients affected by FH-II present a family history of PA caused by either an adrenal adenoma or hyperplasia. Each single case of FH-II is clinically, biochemically, and morphologically indistinguishable from apparently sporadic forms of PA. In most families, a vertical transmission suggests an autosomal dominant inheritance. The diagnosis of FH-II is based on the demonstration of PA in at least two members from the same family. Unfortunately, the genetic background of FH-II remains unknown, and thus, the diagnosis is made by the finding of a consistently high Aldosterone Renin Ratio (ARR) (without interfering medications) with a positive confirmatory test (saline load fludrocortisone) and lack of the hybrid gene responsible for FH-I/GRA (6). This strategy of studying first-degree relatives in FH-I/GRA and FH-II families allowed the diagnosis of PA in normotensive individuals, indicating a different penetrance of the disease, even within the same family (10, 12). A linkage study involving one large Australian family demonstrated linkage between FH-II and a locus at chromosome 7p22 (13). Subsequently this locus has been shown to be in linkage with FH-II in a second Australian family, a South American family, and more recently two Italian families (12). Recent evidence from the Framingham Offspring Study (14) has emphasized the importance of aldosterone in the development of hypertension. This study found a significant relationship between ARR and both blood pressure progression and hypertension development among Framingham study participants and significant heritability of the ARR (15). Intriguingly, in a linkage analysis that included 1225 genotyped individuals from 328 families, the most striking locus of linkage for logARR in the multivariable adjusted model was at chromosome 7p (15). In the study by Geller et al. (8), the authors could not identify the genetic alteration responsible for the disease. However, they excluded the involvement of potential candidate genes such as CYP11B1 and CYP11B2; the angiotensin II and ACTH receptors, DAX-1, which has been implicated in congenital adrenal

Denaturing high performance liquid chromatography used in detection of germline mutation in South American hereditary non-polyposis colorectal cancer families

Bolivia is part of the eight most important centres of biodiversity and domestication of plants in the world, including a broad diversity of Andean grains, roots and tubers. A study was implemented to obtain the quantitative information to develop and validate, a simple growth potential model of Andean tubers in production areas located above 3000 m altitude, and to analyze the difference between species in growth attributes and the resulting tuber production. Three potato species and sub-species (Solanum tuberosum ssp. andigenum and ssp. tuberosum, and Solanum juzepczukii) as well as Oca (Oxalis tuberosa), Isaño (Tropaeolum tuberosum) and Papalisa (Ullucus tuberosus) were studied. Trials were conducted under normal field conditions prevailing in Bolivia but with the best cropping techniques available locally to obtain optimal growing conditions. Data on dry weight (of leaves, stems, tubers and roots) and leaf area were taken at several dates in five trials conducted between 1993 and 2003. The percentage of ground cover was also measured. Beta functions were fitted to data of dry weight and leaf area to establish growth curves. The potato groups have a smaller cycle duration than other Andean tubers. The Crop Growth Analysis indicated three important characteristics differentiating Andean tubers: the S. juzepczukii potato has a high Relative Growth Rate (RGR) and a higher leaf mass ratio but a smaller tuber yield, due to a smaller harvest index (HI) and a very low Net Assimilation Rate (NAR). S. tuberosum ssp. tuberosum potatoes have smaller Leaf Area Index (LAI), and RGR than juzepczukii, but their NAR and HI are higher. S. tuberosum potatoes are quite productive for the size of their LAI. The Tropaeolum tuberosum or Isaño has a great capacity of Ground Cover (GC) or a great LAI that is not translated into a greater tubers yield. It has low RGR, NAR and HI compared to all the other species studied. The crop growth was interpreted in Light Use Efficiency (LUE) and evolution of light interception through a linear model. The LUE of potato group is more elevated than the LUE of the other Andean tubers. Within each group there is no statistical difference for the LUE value. The relationship of LAI with GC or fraction of light interception was determined with both linear and exponential relations. The low slope value for the relationship between LAI and GC characterises all Andean tubers studied compared to results reported for potato under other latitudes.