61 research outputs found

    Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

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    Asthma is a common disease with a complex risk architecture including both genetic and environmental factors. We performed a meta-analysis of North American genome-wide association studies of asthma in 5,416 individuals with asthma (cases) including individuals of European American, African American or African Caribbean, and Latino ancestry, with replication in an additional 12,649 individuals from the same ethnic groups. We identified five susceptibility loci. Four were at previously reported loci on 17q21, near IL1RL1, TSLP and IL33, but we report for the first time, to our knowledge, that these loci are associated with asthma risk in three ethnic groups. In addition, we identified a new asthma susceptibility locus at PYHIN1, with the association being specific to individuals of African descent (P = 3.9 × 10(-9)). These results suggest that some asthma susceptibility loci are robust to differences in ancestry when sufficiently large samples sizes are investigated, and that ancestry-specific associations also contribute to the complex genetic architecture of asthma

    Neuropsychological profile in adult schizophrenia measured with the CMINDS

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    Schizophrenia neurocognitive domain profiles are predominantly based on paper-and-pencil batteries. This study presents the first schizophrenia domain profile based on the Computerized Multiphasic Interactive Neurocognitive System (CMINDS®). Neurocognitive domain z-scores were computed from computerized neuropsychological tests, similar to those in the Measurement and Treatment Research to Improve Cognition in Schizophrenia Consensus Cognitive Battery (MCCB), administered to 175 patients with schizophrenia and 169 demographically similar healthy volunteers. The schizophrenia domain profile order by effect size was Speed of Processing (d=−1.14), Attention/Vigilance (d=−1.04), Working Memory (d=−1.03), Verbal Learning (d=−1.02), Visual Learning (d=−0.91), and Reasoning/Problem Solving (d=−0.67). There were no significant group by sex interactions, but overall women, compared to men, showed advantages on Attention/Vigilance, Verbal Learning, and Visual Learning compared to Reasoning/Problem Solving on which men showed an advantage over women. The CMINDS can readily be employed in the assessment of cognitive deficits in neuropsychiatric disorders; particularly in large-scale studies that may benefit most from electronic data capture

    A multi-scanner study of subcortical brain volume abnormalities in schizophrenia

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    Schizophrenia patients show significant subcortical brain abnormalities. We examined these abnormalities using automated image analysis software and provide effect size estimates for prospective multi-scanner schizophrenia studies. Subcortical and intracranial volumes were obtained using FreeSurfer 5.0.0 from high-resolution structural imaging scans from 186 schizophrenia patients (mean age±SD=38.9±11.6, 78% males) and 176 demographically similar controls (mean age±SD=37.5±11.2, 72% males). Scans were acquired from seven 3-Tesla scanners. Univariate mixed model regression analyses compared between-group volume differences. Weighted mean effect sizes (and number of subjects needed for 80% power at α=0.05) were computed based on the individual single site studies as well as on the overall multi-site study. Schizophrenia patients have significantly smaller intracranial, amygdala, and hippocampus volumes and larger lateral ventricle, putamen and pallidum volumes compared with healthy volunteers. Weighted mean effect sizes based on single site studies were generally larger than effect sizes computed based on analysis of the overall multi-site sample. Prospectively collected structural imaging data can be combined across sites to increase statistical power for meaningful group comparisons. Even when using similar scan protocols at each scanner, some between-site variance remains. The multi-scanner effect sizes provided by this study should help in the design of future multi-scanner schizophrenia imaging studies

    The genetic architecture of the human cerebral cortex

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    The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

    Mesocoelium malayanum Palmieri & Sullivan 1977

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    Mesocoelium malayanum (Figure 22; Table 16) Definitive host: Psamnophis sibilans (Linnaeus), striped sand snake (Squamata: Lamprophiidae). Locality: Kenya. Site: Intestine. Specimens examined: BMNH 1986.9.22. Description of specimens: Based on four specimens. With characteristics of genus. Body monas type, small, posteriorly attenuated, body tapering markedly posteriorly, nearly club-shaped, forebody wider than hindbody, 1,581 (1,400 –1,688) by 377 (425–563); body spines not observed; forebody 535 (450–600) long, 32–37% of body length. Oral sucker spherical to subspherical, 233 (200–250) by 247 (200–283), mouth opening anterior from center of sucker, nearly terminal; prepharynx short; pharynx subspherical to spherical, wider than long, 101 (88–120) by 115 (93–135); esophagus 75 (25–170) long; cecal bifurcation near midlevel of forebody; ceca surpassing ovary posteriorly, terminating near midlevel of hindbody, occupying 29–45% of postovarian space. Ratio of width of oral sucker and pharynx 1:2.2 (1:2.0–1:2.4). Ventral sucker located anterior to midlevel of body, smaller than oral sucker, 203 (175–220) by 202 (178–225). Ratio of sucker widths 1:1.2 (1:1.0–1:1.5). Testes smooth, diagonal, situated at level of ventral sucker. Right testis 155 (98–200) by 131 (85–180); left testis 156 (113–200) by 140 (103–180). Cirrus sac situated between pharynx and ventral sucker, enclosing short cirrus, reduced pars prostatica, short ejaculatory duct surrounded by prostate cells, and bipartite seminal vesicle, 155 (110–170, 8–11% of body length) by 61 (33–95). Genital pore immediately postpharyngeal, prebifurcal, submedian. Ovary smooth, posttesticular, situated short distance posterior to right or left testis, 172 (100–270) by 86 (76–90), removed from posterior end by some distance; postovarian space 789 (700–870) long, 47–54% of body length. Ratio of width of ovary to mean width of testes 1:1.6 (1:1.3–1:2.0). Seminal receptacle spherical, located immediately sinistral and slightly posterior to ovary. Laurer’s canal present, opening on dorsal surface. Vitelline fields distributed along ceca from level of pharynx posteriorly to near midlevel of postovarian space, terminating near to, or surpassing cecal ends; vitelline follicles 28 (17–43) by 25 (17–33) (n = 20). Uterus largely postacetabular, filling most of hindbody. Eggs operculate, 43 (40–45) by 28 (25–30) (n = 30). Excretory vesicle Y-shaped, with poorly developed arms; excretory pore terminal. Remarks: These specimens (BMNH 1986.9.22) have moderately long ceca, and a genital pore that is prebifurcal and submedian, placing them in the monas body type. The posterior extent of the vitelline fields terminate near to, or surpass the cecal ends posteriorly; the gonads overlap the area of the ventral sucker and the body is markedly attenuated posteriorly (nearly club-shaped) so that the forebody is wider than the hindbody, placing them in M. malayanum. Although the eggs of these specimens are somewhat wider (25–30 compared to 22–24), they conform to the original description by Palmieri & Sullivan (1977) in all remaining diagnostic characteristics (Table 16) and were collected from the Old World as the specimens used in the original description of this species (Africa compared to Malaysia). The specimens from BMNH were collected from the striped sand snake, P. sibilans, while those used in the original description were from the fanged river frog, L. macrodon.Published as part of Dronen, Norman O., Calhoun, Dana M. & Simcik, Steven R., 2012, Mesocoelium Odhner, 1901 (Digenea: Mesocoelidae) revisited; a revision of the family and re-evaluation of species composition in the genus 3387, pp. 1-96 in Zootaxa 3387 (1) on page 60, DOI: 10.11646/zootaxa.3387.1.1, http://zenodo.org/record/525392

    Mesocoelium danforthi Hoffman 1935

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    Mesocoelium danforthi (Figures 28–29; Table 17) Definitive hosts: Anolis lineatopis Gray, Jamaican gray anole or striped foot anole (Squamata: Polychrotidae); Bufo marinus Linnaeus, the cane toad (Anura: Bufonidae). Localities: Jamaica, USA; Panama USA. Site: Intestine. Specimens examined: BMNH 1980.12.3.19-22 (Jamaica); USNPC 0.569 38.00 (Panama). Description of specimens: Based on four specimens. With characteristics of genus. Body monas type, small, oval, spinose, 1,907 (1,288 –2,125) by 764 (463–925); body spines 9–11 long; forebody 524 (465–550) long, 26–36% of body length. Mouth slightly subterminal; oral sucker spherical to subspherical, 292 (220–380) by 250 (225–265); prepharynx short; pharynx subspherical to spherical, wider than long, 88 (65–100) by 96 (70–110); esophagus 46 (30–58) long; cecal bifurcation near midlevel of forebody; ceca reaching posterior to ovary terminating near midlevel of hindbody, occupying 27–32% of postovarian space. Ratio of widths of oral sucker and pharynx 1:2.7 (1:2.4–1:3.2). Ventral sucker located anterior to midlevel of body, smaller than oral sucker, 170 (130–190) by 180 (120–220). Ratio of sucker widths 1:1.5 (1:1.3–1:1.9). Testes smooth, diagonal, situated at level of ventral sucker. Right testis 154 (78–230) by 167 (92–250); left testis 163 (105–220) by 165 (105–225). Cirrus sac situated between pharynx and ventral sucker, enclosing short cirrus, reduced pars prostatica, short ejaculatory duct surrounded by prostate cells, and bipartite seminal vesicle, 159 (145–173, 8–11% of body length) by 43 (38–52). Genital pore near posterior margin of pharynx, prebifurcal, submedian. Ovary smooth, posttesticular, situated short distance posterior to right or left testis, 173 (125–220) by 160 (90–230), removed from posterior end by some distance; postovarian space 1,618 (645–1,303) long, 50–62% of body length. Ratio of width of ovary to mean width of testes 1:0.9 (1:1.0–1:1.0). Seminal receptacle spherical, located immediately sinistral and slightly posterior to ovary. Laurer’s canal present, opening not observed. Vitelline fields distributed along ceca from level of oral sucker posteriorly to near midlevel of hindbody, terminating near to, or surpassing cecal ends; vitelline follicles 43 (21–80) by 41 (20–70) (n = 20). Uterus largely postacetabular, filling most of hindbody. Eggs operculate, 35 (32–38) by 20 (18–23) (n = 30). Excretory vesicle Y-shaped, with poorly developed arms; excretory pore slightly subterminal. Remarks: These specimens (BMNH 1980.12.3.19-22; USNPC 056938.00) have moderately long ceca, and a genital pore that is prebifurcal and submedian, placing them in the monas body type. The posterior extent of the vitelline fields terminate near to, or surpass the cecal ends posteriorly; the gonads overlap the area of the ventral sucker; the body is oval, widest near midbody; the genital pore is located near posterior margin of the pharynx; the ceca are moderately long, terminating near midlevel of postovarian space and occupying 27–32% of the postovarian space; and the maximum egg size is 38 by 23, placing it in M. danforthi. These specimens conform in all respects to the type series of M. danforthi (Table 17), but appear to have slightly larger body spines (9–11 long compared to 4–5 from only a few remaining, possibly damaged, spines of a paratype). It should be noted that these specimens are much less contracted than those used in the original description by Hoffman (1935) (based on Figure 13) or those used in the study on growth and morphological variation of M. danforthi by Mettrick & Dunkley (1968) (based on Figure 1 and the nature of the esophagus profiled in the sections in Figure 2, illustrations C and D). These specimens (BMNH 1980.12.3.19-22; USNPC 056938.00) show the presence of a short esophagus (30–58 long).Published as part of Dronen, Norman O., Calhoun, Dana M. & Simcik, Steven R., 2012, Mesocoelium Odhner, 1901 (Digenea: Mesocoelidae) revisited; a revision of the family and re-evaluation of species composition in the genus 3387, pp. 1-96 in Zootaxa 3387 (1) on page 70, DOI: 10.11646/zootaxa.3387.1.1, http://zenodo.org/record/525392

    Mesocoelium Odhner 1910

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    Genus Mesocoelium Odhner, 1910 Diagnosis. With characteristics of family. Body elongate to oval or elliptical, often rounded at both ends, may be somewhat tapered posteriorly, (typically widest from level of ventral sucker to near midlevel of body), some species with body attenuated posteriorly, typically clavate (widest at level of forebody). Preoral lobe sometimes evident; oral sucker subterminal; mouth opening ventrally, centrally located in oral sucker in some species, opening more anteriorly in others (sometimes approaching being terminal); prepharynx short, nearly absent; pharynx smaller than oral sucker, muscular, usually wider than long; esophagus present, much longer than prepharynx; ceca short (not surpassing ovary posteriorly) to moderately long (surpassing ovary, extending some distance into postovarian space, rarely extending beyond midlevel of postovarian space). Ventral sucker well above midlevel of body, usually in anterior ⅓ of body, smaller than oral sucker. Testes spherical to subspherical, sometimes laterally elongate, generally smooth, oblique to nearly side by side, at level of ventral sucker, occasionally postacetabular. Cirrus sac well developed, enclosing bipartite seminal vesicle and prostate cells, often clavate, largely between cecal bifurcation and ventral sucker, may overlap anterior margin of ventral sucker. Genital pore prebifurcal, median or submedian; bifurcal, median or submedian; or postbifurcal and median. Ovary oval to elongate, smooth, postesticular, forming triangle with testes. Seminal receptacle saccate, posteromedial to ovary. Laurer’s canal present. Uterus with highly folded ascending and descending limbs, filling most of postovarian space, ascending limb passing lateral to testes opposite of ovary; uterine loops may approach body wall; metraterm short, indistinct. Vitellaria follicular, ventral and lateral to ceca; vitelline fields may reach to midlevel of oral sucker anteriorly, posterior extent variable, terminating from some distance anterior to ventral sucker to midlevel of postovarian space, exceptionally more posterior. Excretory vesicle Y-shaped, with poorly developed arms to I-shaped; excretory pore terminal to slightly subterminal. Life cycle where known utilizes terrestrial snail first intermediate host, where cercariae may form metacercariae in first intermediate host or possibly in a second snail host; arthropods may be implicated as potential second intermediate hosts for some species. Adults in intestines of amphibians and reptiles, rarely fish; found between 49º N and 49º S latitudes. Type species. Mesocoelium sociale (Lühe, 1901) Odhner, 1910.Published as part of Dronen, Norman O., Calhoun, Dana M. & Simcik, Steven R., 2012, Mesocoelium Odhner, 1901 (Digenea: Mesocoelidae) revisited; a revision of the family and re-evaluation of species composition in the genus 3387, pp. 1-96 in Zootaxa 3387 (1) on page 7, DOI: 10.11646/zootaxa.3387.1.1, http://zenodo.org/record/525392

    Mesocoelium thapari Gupta & Jahan 1976

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    Mesocoelium thapari (Figure 44; Table 16) Definitive host: Pangasius micronemus (Bleeker), shortbarbel pangasius (Suluriformes: Pangasiidae). Locality: Malaysia. Site: Intestine. Specimens examined: Voucher specimens BMNH 1983.4.25. Description of specimens. Based on two adult specimens. With characteristics of genus. Body leiperi type, relatively large, elongate with slightly rounded ends, 3,544 (3,513 –3,575) by 1,013 (925–1,100); no body spines observed; forebody 888 (840–935) long, 23–27% of body length. Mouth subterminal; oral sucker spherical to subspherical, 278 (275–280) by 288 (255–320); prepharynx short; pharynx wider than long, 92 (88–95) by 94 (77–110); esophagus longer than prepharynx, 140 (110–170) long; cecal bifurcation ⅓ distance down forebody; ceca reaching well posterior to ovary, terminating about ¾ distance down hindbody, occupying 58–62% of length of postovarian space. Ratio of widths of oral sucker and pharynx 1:3.1 (1:2.9–1:3.3). Ventral sucker located upper ⅓ down body, smaller than oral sucker, 228 (205–250) by 225 (220–230). Ratio of sucker widths 1:1.3 (1: 1.1–1:1.5). Testes smooth, nearly side by side to slightly diagonal, overlapping posterior ½ of ventral sucker. Right testis 173 (170–175) by 158 (130–184); left testis 174 (145–203) by 144 (118–183). Cirrus sac medial, situated immediately postbifurcal, well anterior to ventral sucker, enclosing short cirrus, reduced par prostatica, short to medium ejaculatory duct surrounded by prostate cells and bipartite seminal vesicle, 237 (223–250, 6–7% of body length) by 60 (50–70). Genital pore postbifurcal, median. Ovary smooth, posttesticular, situated immediately posterior to right or left testis, 130 (120–140) by 132 (120–143), removed from posterior end by some distance; postovarian space 2,163 (2,075 –2,250) long, 59–63% of body length. Seminal receptacle spherical, located immediately sinistral to ovary. Laurer’s canal present, opening not observed. Vitelline fields distributed along ceca from level of esophagus posteriorly to midlevel of postovarian space or more posterior, terminating a short distance anterior to cecal ends; vitelline follicles delicate (poorly developed), sparsely scattered along ceca, 39 (30–60) by 41 (22–90). Uterus occupies most of hindbody, largely postacetabular. Eggs operculate, 37 (36–39) by 22 (20–23) (n = 25). Excretory vesicle Y-shaped; excretory pore terminal. Remarks: These specimens (BMNH 1983.4.25) have moderately long ceca, and a genital pore that is postbifurcal and median, placing them in the leiperi body type. The posterior extent of the vitelline fields terminate well anterior to the cecal ends (about ¾ of the cecal length); the ceca are unusually long, occupying 59–63% of the length of the postovarian space and there are few, delicate, sparsely scattered vitelline follicles present, placing these specimens in M. thapari. These specimens are somewhat larger than those reported by Gupta & Jahan (1976) in the original description of this species (3,513 –3,575 long compared to 2,430 –2,800), have a smaller egg (36–39 long compared to 40–50) and are from a catfish rather than a frog, but correspond in all other respects to M. thapari (Table 16). It is possible that these specimens represent an undescribed species, but without additional specimens we feel the appearance and distribution of the vitelline follicles and similarities in measurements warrant their preliminary assignment to M. thapari. Both are from the same general geographic region of the Old world (Malaysia and India, respectively).Published as part of Dronen, Norman O., Calhoun, Dana M. & Simcik, Steven R., 2012, Mesocoelium Odhner, 1901 (Digenea: Mesocoelidae) revisited; a revision of the family and re-evaluation of species composition in the genus 3387, pp. 1-96 in Zootaxa 3387 (1) on pages 83-86, DOI: 10.11646/zootaxa.3387.1.1, http://zenodo.org/record/525392
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