pinecone/core-2020-05-10-deduplication huggingface dataset:
Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499&#8201;g; most MCA (60.7%) weighed less than 2,500&#8201;g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. ? 2011 Wiley Periodicals, In
Conjoined Twins: A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research

Conjoined twins (CT) are a very rare developmental accident of uncertain etiology. Prevalence has been previously estimated to be 1 in 50,000 to 1 in 100,000 births. The process by which monozygotic twins do not fully separate but form CT is not well understood. The purpose of the present study was to analyze diverse epidemiological aspects of CT, including the different variables listed in the Introduction Section of this issue of the Journal. The study was made possible using the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) structure. This multicenter worldwide research includes the largest sample of CT ever studied. A total of 383 carefully reviewed sets of CT obtained from 26,138,837 births reported by 21 Clearinghouse Surveillance Programs (SP) were included in the analysis. Total prevalence was 1.47 per 100,000 births (95% CI: 1.32-1.62). Salient findings including an evident variation in prevalence among SPs: a marked variation in the type of pregnancy outcome, a similarity in the proportion of CT types among programs: a significant female predominance in CT: particularly of the thoracopagus type and a significant male predominance in parapagus and parasitic types: significant differences in prevalence by ethnicity and an apparent increasing prevalence trend in South American countries. No genetic, environmental or demographic significant associated factors were identified. Further work in epidemiology and molecular research is necessary to understand the etiology and pathogenesis involved in the development of this fascinating phenomenon of nature. ? 2011 Wiley Periodicals, Inc
Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research

Cyclopia is characterized by the presence of a single eye, with varying degrees of doubling of the intrinsic ocular structures, located in the middle of the face. It is the severest facial expression of the holoprosencephaly (HPE) spectrum. This study describes the prevalence, associated malformations, and maternal characteristics among cases with cyclopia. Data originated in 20 Clearinghouse (ICBDSR) affiliated birth defect surveillance systems, reported according to a single pre-established protocol. A total of 257 infants with cyclopia were identified. Overall prevalence was 1 in 100,000 births (95%CI: 0.89-1.14), with only one program being out of range. Across sites, there was no correlation between cyclopia prevalence and number of births (r&#8201;=&#8201;0.08; P&#8201;=&#8201;0.75) or proportion of elective termination of pregnancy (r&#8201;=&#8201;&#8722;0.01; P&#8201;=&#8201;0.97). The higher prevalence of cyclopia among older mothers (older than 34) was not statistically significant. The majority of cases were liveborn (122/200; 61%) and females predominated (male/total: 42%). A substantial proportion of cyclopias (31%) were caused by chromosomal anomalies, mainly trisomy 13. Another 31% of the cases of cyclopias were associated with defects not typically related to HPE, with more hydrocephalus, heterotaxia defects, neural tube defects, and preaxial reduction defects than the chromosomal group, suggesting the presence of ciliopathies or other unrecognized syndromes. Cyclopia is a very rare defect without much variability in prevalence by geographic location. The heterogeneous etiology with a high prevalence of chromosomal abnormalities, and female predominance in HPE, were confirmed, but no effect of increased maternal age or association with twinning was observed. ? 2011 Wiley Periodicals, Inc
Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance and Research, and were reported according to a single pre-established protocol. Cases were clinically evaluated locally and reviewed centrally. A total of 249 cases with sirenomelia were identified among 25,290,172 births, for a prevalence of 0.98 per 100,000, with higher prevalence in the Mexican registry. An increase of sirenomelia prevalence with maternal age less than 20 years was statistically significant. The proportion of twinning was 9%, higher than the 1% expected. Sex was ambiguous in 47% of cases, and no different from expectation in the rest. The proportion of cases born alive, premature, and weighting less than 2,500&#8201;g were 47%, 71.2%, and 88.2%, respectively. Half of the cases with sirenomelia also presented with genital, large bowel, and urinary defects. About 10-15% of the cases had lower spinal column defects, single or anomalous umbilical artery, upper limb, cardiac, and central nervous system defects. There was a greater than expected association of sirenomelia with other very rare defects such as bladder exstrophy, cyclopia/holoprosencephaly, and acardia-acephalus. The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies. ? 2011 Wiley Periodicals, Inc
Similar reliability and equivalent performance of female and male mice in the open field and water-maze place navigation task

Although most nervous system diseases affect women and men differentially, most behavioral studies using mouse models do not include subjects of both sexes. Many researchers worry that data of female mice may be unreliable due to the estrous cycle. Here, we retrospectively evaluated sex effects on coefficient of variation (CV) in 5,311 mice which had performed the same place navigation protocol in the water-maze and in 4,554 mice tested in the same open field arena. Confidence intervals for Cohen's d as measure of effect size were computed and tested for equivalence with 0.2 as equivalence margin. Despite the large sample size, only few behavioral parameters showed a significant sex effect on CV. Confidence intervals of effect size indicated that CV was either equivalent or showed a small sex difference at most, accounting for less than 2% of total group to group variation of CV. While female mice were potentially slightly more variable in water-maze acquisition and in the open field, males tended to perform less reliably in the water-maze probe trial. In addition to evaluating variability, we also directly compared mean performance of female and male mice and found them to be equivalent in both water-maze place navigation and open field exploration. Our data confirm and extend other large scale studies in demonstrating that including female mice in experiments does not cause a relevant increase of data variability. Our results make a strong case for including mice of both sexes whenever open field or water-maze are used in preclinical research
Synthesis of 2-Aryl-5-Nitropyridines by Three-Component Ring Transformation of 3,5-Dinitro-2-Pyridone

2-Arylated-5-nitropyridines were efficiently synthesized by a three-component ring transformation of 3,5-dinitro-2-pyridone with aromatic ketones in the presence of ammonium acetate, in which the dinitropyridone serves as a synthetic equivalent of an unstable nitromalonaldehyde. Although a 2,8-diazabicyclo[3.3.1]non-3-ene derivative was also formed as a byproduct, it was converted into nitropyridines under the reaction conditions, heating in the presence of ammonium acetate. This experimental fact implies that the former compound is a kinetically controlled product and the latter is a thermodynamically controlled product because of the aromatization. This method is applicable to various kinds of aryl and (hetero)aryl ketones to afford the corresponding (hetero)arylated pyridines in good to excellent yields
An Electron-Accepting Chromophore Based on Fluorene and Naphthalenediimide Building Blocks for Solution-Processable Bulk Heterojunction Devices

We have designed, synthesized and utilized a new non-fullerene electron acceptor, 9,9′-(9,9-dioctyl-9H-fluorene-2,7-diyl)bis(2,7-dioctyl-4-(octylamino)benzo[lmn][3,8]phenanthroline-1,3,6,8(2H,7H)-tetraone) (B2), for use in solution-processable bulk-heterojunction devices. B2 is based on a central fluorene moiety, which was capped at both ends with an electron-accepting naphthalenediimide functionality. B2 exhibited excellent solubility (>30 mg mL−1 in chloroform), high thermal and photochemical stability, and appropriate energy levels for use with the classical polymer donor regioregular poly(3-hexylthiophene). A power conversion efficiency of 1.16 % was achieved for primitive bulk-heterojunction devices with a high fill factor of approximately 54 %
Conjoint use of Dibenzosilole and Indan-1,3-dione Functionalities to Prepare an Efficient Non-Fullerene Acceptor for Solution-Processable Bulk-Heterojunction Solar Cells

A solution-processable, non-fullerene electron acceptor, 2,2′-(((5,5-dioctyl-5 H-dibenzo[b,d]silole-3,7-diyl)bis(thiophene-5,2-diyl))bis(methanylylidene))bis(1 H-indene-1,3(2 H)-dione) (called N5) comprised of dibenzosilole and 1,3-indanedione building blocks was designed, synthesized, and fully characterized. N5 is highly soluble in various organic solvents, has high thermal stability, and has energy levels matching those of archetypal donor poly(3-hexylthiophene). Solution-processable, bulk-heterojunction solar cells afforded promising power conversion efficiency of 2.76 % when N5 was used as a non-fullerene electron acceptor along with the conventional donor polymer poly(3-hexylthiophene). As per our knowledge, the material reported herein is the first example in the literature where synchronous use of such building blocks is demonstrated in the design an efficient, non-fullerene acceptor
Stereoselective Total Synthesis of Myriocin Using Rh(II)-Catalyzed C–H Amination Followed by Alkylation

The stereoselective total synthesis of myriocin was achieved by using the Du Bois Rh(II)-catalyzed C−H amination of sulfamate 6 and a subsequent alkylation. The reaction of sulfamate 6 with PhI(OAc)2 and MgO in the presence of Rh2(OAc)4 gave oxathiazinane N,O-acetal as the sole product in high yield. Alkylation of the N,O-acetal using vinylmagnesium bromide in the presence of ZnCl2 proceeded stereoselectively to provide an oxathiazinane bearing a quaternary chiral center in high yield. This route includes the first application of the Du Bois procedure for the construction of a quaternary chiral center
Dihydro-β-agarofurans from the Australian Endemic Rainforest Plant Denhamia pittosporoides Inhibit Leucine Transport in Prostate Cancer Cells

Two previously unknown dihydro-β-agarofuran sesquiterpenoids, denhaminol I (1) and denhaminol J (2), together with four related and known metabolites, 1α,2α,6β,15-tetraacetoxy-9α-benzoyloxy-8-oxodihydro-β-agarofuran (3), wilforsinine F (4), 1α,2α,6β,8α,15-pentaacetoxy-9α-benzoyloxydihydro-β-agarofuran (5), and 1α,2α,6β,15-tetraacetoxy-9β-benzoyloxydihydro-β-agarofuran (6), were isolated from the leaves of an Australian rainforest plant, Denhamia pittosporoides. The structures of compounds 1 and 2 were determined by analysis of their 1D/2D NMR and MS data. The absolute configuration of compound 1 was established by single-crystal X-ray diffraction analysis. Compounds 1 and 4 were shown to inhibit leucine transport in the human prostate cancer cell line LNCaP, with IC50 values of 51.5 and 95.5 μm, respectively. Both compounds 1 and 4 were more potent than the l-type amino acid transporter (LAT) family inhibitor 2-aminobicyclo[2.2.1]-heptane-2-carboxylic acid (BCH). This is the first report of dihydro-β-agarofurans from D. pittosporoides.Griffith Sciences, School of Natural SciencesFull Tex
Securinega Alkaloids : Complex Structures, Potent Bioactivities, and Efficient Total Syntheses

The Securinega alkaloids feature a compact tetracyclic structural framework and can be divided into four subclasses characterized by either a bridged [2.2.2]‐ or a [3.2.1]‐bicyclic core with two homologous series in each subclass. In the last two decades, many innovative strategies to chemically access the Securinega alkaloids have been developed. This Focus Review discusses the selected structures and syntheses of representative members of the Securinega alkaloids. Ring‐closing metathesis has enabled the syntheses of securinine and norsecurinine, and different cycloaddition approaches were key to the syntheses of nirurine and virosaines A and B. Virosine A was accessed through a Vilsmeier–Haack/Mannich reaction cascade. A bio‐inspired vinylogous Mannich reaction has enabled the synthesis of allosecurinine and this strategy has been extended by an intramolecular 1,6‐addition to obtain bubbialidine and secu′amamine E. A rearrangement process of the latter two alkaloids has furnished allonorsecurinine and allosecurinine, respectively. Finally, an expanded model for the biogenesis of the Securinega alkaloid subclasses is discussed
Factors affecting fecal glucocorticoid levels in semi-free-ranging female mandrills (Mandrillus sphinx).

Subordinate female cercopithecine primates often experience decreased reproductive success in comparison with high-ranking females, with a later age at sexual maturity and first reproduction and/or longer interbirth intervals. One explanation that has traditionally been advanced to explain this is high levels of chronic social stress in subordinates, resulting from agonistic and aggressive interactions and leading to higher basal levels of glucocorticoids. We assessed the relationships among fecal cortisol levels and reproductive condition, dominance rank, degree of social support, and fertility in female mandrills (Mandrillus sphinx) living in a semi-free-ranging colony in Franceville, Gabon. Lower-ranking females in this colony have a reproductive disadvantage relative to higher-ranking females, and we were interested in determining whether this relationship between dominance rank and reproductive success is mediated through stress hormones. We analyzed 340 fecal samples from 19 females, collected over a 14-month period. We found that pregnant females experienced higher fecal cortisol levels than cycling or lactating females. This is similar to results for other primate species and is likely owing to increased metabolic demands and interactions between the hypothalamus-pituitary-adrenal axis, estrogen, and placental production of corticotrophin releasing hormones during pregnancy. There was no influence of dominance rank on fecal cortisol levels, suggesting that subordinate females do not suffer chronic stress. This may be because female mandrills have a stable social hierarchy, with low levels of aggression and high social support. However, we found no relationship between matriline size, as a measure of social support, and fecal cortisol levels. Subordinates may be able to avoid aggression from dominants in the large enclosure or may react only transiently to specific aggressive events, rather than continuously expecting them. Finally, we found no relationship between fecal cortisol levels and fertility. There was no difference in fecal cortisol levels between conceptive and nonconceptive cycles, and no significant relationship between fecal cortisol level and either the length of postpartum amenorrhea or the number of cycles before conception. This suggests that the influence of dominance rank on female reproductive success in this population is not mediated through chronic stress in subordinate females, and that alternative explanations of the relationship between social rank and reproduction should be sought
Proximate factors underpinning receiver responses to deceptive false alarm calls in wild tufted capuchin monkeys: is it counterdeception?

Previous research demonstrates that tufted capuchin monkeys use terrestrial predator alarm calls in a functionally deceptive manner to distract conspecifics when feeding on contestable resources, although the success of this tactic is limited because listeners frequently ignore these calls when given in such situations. While this decreased response rate is suggestive of a counterstrategy to deception by receivers, the proximate factors underpinning the behavior are unclear. The current study aims to test if the decreased response rate to alarm calls in competitive contexts is better explained by the perception of subtle acoustic differences between predator-elicited and deceptive false alarms, or by receivers varying their responses based on the context in which the signal is received. This was tested by first examining the acoustic structure of predator-elicited and deceptive false alarms for any potentially perceptible acoustic differences, and second by comparing the responses of capuchins to playbacks of each of predator-elicited and false alarms, played back in noncompetitive contexts. The results indicate that deceptive false alarms and predator-elicited alarms show, at best, minimal acoustic differences based on the structural features measured. Likewise, playbacks of deceptive false alarms elicited antipredator reactions at the same rate as did predator-elicited alarms, although there was a nonsignificant tendency for false alarms to be more likely to elicit escape reactions. The lack of robust acoustic differences together with the high response rate to false alarms in noncompetitive contexts suggests that the context in which the signal is received best explains receiver responses. It remains unclear, however, if listeners ascribe different meanings to the calls based on context, or if they generally ignore all signals in competitive contexts. Whether or not the decreased response rate of receivers directly stems from the deceptive use of the calls cannot be determined until these latter possibilities are rigorously tested
Ontogeny of a social custom in wild chimpanzees: age changes in grooming hand-clasp at Mahale

Among cultural behaviors of chimpanzees, the developmental processes of complex skills involved in tool use are relatively well known. However, few studies have examined the ontogeny of social customs that do not require complex skills. Thus, in this study, we describe the developmental process of the grooming hand-clasp (GHC), one of the well-known social customs of chimpanzees at Mahale. We have collected 383 cases of GHC where at least one of the participants was 15 years old or younger during 1994-2007. First performances of GHC with the mother were observed at around 4-6 years old; the earliest observed age was 4 years and 4 months old. The first performances of GHC with nonrelated females were at around age 9 years, and those with adult males at around 11 years. However, some orphans engaged in GHC earlier than nonorphans. By gradually expanding GHC partners from the mother to other females and then to males, chimpanzees increased the number of GHC partners with age. Young males were observed to perform GHC with larger numbers of partners than were young females. GHC by young chimpanzees was shorter in duration than that among adults. Overall, the ontogeny of GHC showed several dissimilarities with that of tool use and was more an extension of the development of typical grooming behavior. For example, infants did not try to perform GHC initially; instead, mothers were more active in the earliest stages. These results suggest that not all socially learned cultural behaviors are acquired in the way of learning tool use. There may be various ways of learning behavioral patterns that are performed continuously in a group and that consequently comprise culture in chimpanzees
Death of the alpha: within-community lethal violence among chimpanzees of the Mahale Mountains National Park

Chimpanzees (Pan troglodytes) are capable of extreme violence. They engage in inter‐group, sometimes lethal, aggression that provides the winners with an opportunity to enlarge their territory, increase their food supply and, potentially, attract more mates. Lethal violence between adult males also occurs within groups but this is rare; to date, only four cases (three observed and one inferred) have been recorded despite decades of observation. In consequence, the reasons for within‐group lethal violence in chimpanzees remain unclear. Such aggression may be rare due to the importance of coalitions between males during inter‐group encounters; cooperation between males is also thought to be key in the defense or advancement of social rank within the group. Previous accounts of within‐group lethal violence concern victims who were low‐ranking males; here we provide the first account of the killing of an incumbent alpha male by a coalition of adult males from the same community. We found no clear evidence that the alpha male's position was under threat during the months before the lethal attack: the male dominance hierarchy was highly stable, with low rates of male–male aggression, and there were no significant changes in social interactions (i.e. grooming and aggression) between the alpha male and the other adult males. Two of the four attackers were former alpha males and were the individuals with whom the victim appeared, in the period preceding his death, to be most strongly affiliated: his most frequent grooming partners and those with whom he spent most time in proximity. The lethal attack triggered a period of instability in the male hierarchy and was likely an opportunistic attempt to seize alpha status by the third‐ranking male.Wenner‐Gren Foundation, the Leverhulme Trust, Japan Society of Promotion of Science. Grant Number: 2173059