42 research outputs found

    Cross-species chromosome painting in bats from Madagascar: the contribution of Myzopodidae to revealing ancestral syntenies in Chiroptera

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    The chiropteran fauna of Madagascar comprises eight of the 19 recognized families of bats, including the endemic Myzopodidae. While recent systematic studies of Malagasy bats have contributed to our understanding of the morphological and genetic diversity of the island’s fauna, little is known about their cytosystematics. Here we investigate karyotypic relationships among four species, representing four families of Chiroptera endemic to the Malagasy region using cross-species chromosome painting with painting probes of Myotis myotis: Myzopodidae (Myzopoda aurita, 2n=26), Molossidae (Mormopterus jugularis, 2n=48), Miniopteridae (Miniopterus griveaudi, 2n=46), and Vespertilionidae (Myotis goudoti, 2n=44). This study represents the first time a member of the family Myzopodidae has been investigated using chromosome painting. Painting probes of Myotis. myotis were used to delimit 30, 24, 23, and 22 homologous chromosomal segments in the genomes of Myzopoda aurita, Mormopterus jugularis, Miniopterus . griveaudi and Myotis . goudoti, respectively. Comparison of GTG-banded homologous chromosomes/chromosomal segments among the four species revealed the genome of M. aurita has been structured through 15 fusions of chromosomes and chromosomal segments of Myotis. myotis chromosomes leading to a karyotype consisting solely of bi-armed chromosomes. In addition, chromosome painting revealed a novel X-autosome translocation in Myzopoda. aurita. Comparison of our results with published chromosome maps provided further evidence for karyotypic conservatism within the genera Mormopterus, Miniopterus and Myotis. Mapping of chromosomal rearrangements onto a molecular consensus phylogeny revealed ancestral syntenies shared between Myzopoda and other bat species of the infraorders Pteropodiformes and Vespertilioniformes. Our study provides further evidence for the involvement of Robertsonian (Rb) translocations and fusions/fissions in chromosomal evolution within Chiroptera

    Global Retinoblastoma Presentation and Analysis by National Income Level

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    Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale. Objectives: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. Design, Setting, and Participants: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. Main Outcomes and Measures: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. Results: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4) were female. Most patients (n = 3685 84.7%) were from low-and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 62.8%), followed by strabismus (n = 429 10.2%) and proptosis (n = 309 7.4%). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 95% CI, 12.94-24.80, and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 95% CI, 4.30-7.68). Conclusions and Relevance: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs. © 2020 American Medical Association. All rights reserved

    EXPLORING CHRISTIAN LEADERSHIP IN PARACHURCH ORGANISATIONS IN LESOTHO

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    The article explores authentic Christian leadership, as it applies to workplaces of parachurch organisations in Lesotho. The leadership of parachurch organisations have a responsibility to transform society through the influence they can exert on their employees. A qualitative methodology was used that involved interviews with ten chief executive officers and ten focus-group interviews from ten parachurch institutions based in the Maseru district, Lesotho. The theoretical framework and empirical analysis propose a leadership strategy that pays attention to servant leadership and team leadership that peruse an open and inclusive communication strategy. The empirical analysis indicates that leadership, through a competent and ethical example, is an essential dimension of authentic leadership in the workplace. Christians holding leadership positions in parachurch organisations must have strong intentions if they hope to influence and impact on the workplace for God and become the answer to the problems facing Lesotho

    Die invloed van voedingspeil op puberteitsbereiking by Nguni, Bonsmara en Drakensbergerverse

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    The effect of feeding level on puberty development in Nguni, Bonsmara and Drakensberger heifers. The growing interest in the Nguni and the need for reliable data on the breed led firstly to an investigation of puberty development in Nguni, Bonsmara and Drakensberger heifers. Secondly puberty development was also studied in Nguni heifers under extensive conditions. Nguni heifers reached puberty at a highly significant (P < 0,01) earlier age (349,91 days) and lower mass (238,23 kg) as compared with Drakensberger and Bonsmara heifers. The Drakensberger heifers were slightly younger (407,21 days) and lighter (298,71 kg) than the Bonsmara heifers which were 418,96 days old and with a mass of 341,39 kg. The Bonsmara, Drakensberger and Nguni heifers gained 1080, 870, and 760 g per day, respectively, from weaning to the attainment of puberty. Nguni heifers consumed significantly less feed (326,8 kg) compared to the Drakensberger (780,27 kg) and Bonsmara heifers (1 151,27 kg). At puberty the Nguni heifers were the smallest. The Drakensberger and Bonsmara heifers had approximately the same stage of conformational development. The group of Nguni heifers which were under intensive feeding conditions, maintained a highly signifIcant (P < 0,01) higher ADG, attained puberty at a highly signillcant (P < 0,01) earlier age (344,51 versus 399,89 days) and on a slightly though nonsignificant lower mass (237,27 vs 234,85 kg) than the group under extensive conditions.Die groeiende belangstelling in die Nguni en die behoefte aan betroubare inligting oor die ras het eerstens gelei tot 'n ondersoek na puberteitsontwikkeling by Nguni, Bonsmara en Drakensbergerverse onder intensiewe voedingstoestande, Tweedens is puberteitsontwikkeling ook by Nguniverse onder ekstensiewe toestande bestudeer. Nguniverse het puberteit op 'n hoogs betekenisvolle (P< 0,01) vroeë ouderdom (349,91 dae) en ligter massa (238,23 kg) bereik vergeleke met Drakensberger en Bonsmaraverse. Drakensbergerverse was met puberteit ietwat jonger (407,21 dae) en ligter (298,71 kg) as die Bonsmaraverse wat 418,96 dae oud was en 'n massa van 341,39 kg gehad het. Bonsmara, Drakensberger en Nguniverse het vanaf speen tot met die bereiking van puberteit, respektiewelik 1 080, 870, en 760 g per dag gehandhaaf. Nguniverse het heelwat minder voer verbruik (326,8 kg) vergeleke met die Drakensberger (780,27 kg) en die Bonsmaraverse (1 151,27 kg). Nguniverse was met puberteit kleiner as die Bonsmara en Drakensbergerverse wat op hulle beurt puberteit nagenoeg op dieselfde stadium van bouvorm ontwikkeling bereik het. Die groep Nguniverse wat onder intensiewe voedingstoestande 'n hoogs betekenisvolle (P < 0,01) hoër GDT gehandhaaf het, het puberteit op 'n hoogs betekenisvolle (P< 0,01) vroeër ouderdom (344,51 teenoor 399,89 dae) en ietwat swaarder (237,27 teenoor 234,85 kg) maar nie betekenisvolle hoër massa, bereik as die groep onder ekstensiewe toestande.Keywords: Nguni, puberty, feeding leve

    Appropriateness and Diagnostic Yield of Colonoscopy in Young Women

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    Abstract #W1448Background: The incidence of significant abnormalities at colonoscopy increases with age. Despite this, many young women are referred to tertiary gastroenterology units for investigation of various symptoms including abdominal pain & altered bowel habit. Many of these patients are then referred for colonoscopy. Our aim was therefore to investigate the diagnostic yield & impact on clinical management of colonoscopy in young women. Methods: Retrospective audit of 100 consecutive colonoscopies at an adult referral unit in women !30 years. Clinical indications, blood test results pre-procedure, diagnosis & treatment post-procedure were analysed. Clinical indications were classified as ‘‘hard’’ or ‘‘soft’’. Hard indications included; rectal bleeding, evidence of inflammation (fever, pathologic CRP, ESR, WCC or platelet count), anaemia, iron deficiency or strong family history of CRC. Soft indications were abdominal pain & altered bowel motions. Results: The average age was 23, (range 16-30). Sixty women had both soft and hard indications; 11 only hard indications and 28 only soft indications. Most common symptoms were abdominal pain (n Z 64), overt rectal bleeding (n Z 48,) chronic diarrhoea (n Z 33), acute diarrhoea (n Z 17), constipation (n Z 14) & alternating bowel motions (n Z 17). 15 women had iron deficiency with 11 also anaemic. 58 colonoscopies were normal, 17 revealed inflammatory bowel disease. Other diagnoses included haemorrhoids, rectal prolapse, anal fissure, polyps and one rectal carcinoma. The yield of abnormalities was far greater in those with any hard indication as compared to those with only soft indications 42/72 vs. 0/28, p ! 0.0001. All females with inflammatory bowel disease presented with at least 2 hard indications and 11 out of 17 presented with three or more hard indications. The patient with rectal carcinoma presented with overt rectal bleeding. Of the 58 with a normal colonoscopy, 28 (48 %) presented with only soft indications & another 21 had only one hard indication. No subject with only soft indications had an abnormal finding; however 2 had significant pain post procedure, one requiring admission. After colonoscopy 16/17 with IBD started immunosuppressants, 7 had surgery & 4 were treated with antibiotics. In 42 women no treatment was started; 37 of these (77%) had a normal colonoscopy. Conclusion: There is a good yield at colonoscopy in young women with definite indications; however, significant abnormalities are unlikely when only soft indications are present. IBD is usually strongly suspected pre-procedure. A normal colonoscopy allows avoidance of specific therapy, and may thus be of some value, although this requires further assessment.Karen Steveling, Gerald J. Holtmann, Mark Schoeman, Jane M. Andrew

    T2015 Multivariate Analysis of Predictors for Severity of Mucosal Lesions in Patients with GERD Symptoms (Mapsomal): A Clinical, Epidemiological and Endoscopic Survey

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    Background: Improvement of symptoms plays a critical role for assessment of treatment outcome in patients with gastroesophageal reflux disease (GERD). Interestingly, most data on long-term outcome of these patients come from clinical trials that assessed the response to treatment in highly standardized trial conditions, with very strict entry criteria and frequent follow-up visits, that are unlikely to be representative of outcomes in standard clinical settings. AIM: To assess the long-term outcome of patients presenting with GERD symptoms for diagnostic work-up in a usual clinical care setting and the clinical predictors of response/ non-response. This abstract summarizes the interim analysis after recruitment of 100 patients. Methods: One hundred patients referred for endoscopic assessment of suspected GERD within a single metropolitan area health service were recruited; 82 consecutive patients from the Royal Adelaide Hospital (RAH) and 28 from the Lyell McEwen Health Centre (LMH). Symptoms and psychological co-morbidities were assessed utilizing the Bowel Disease Ques- tionnaire, the Hospital Anxiety and Depression Scale and the Nepean Dyspepsia Index. Questionnaires were mailed to the patients. Data on endoscopic findings at referral using the Los Angeles (LA) classification were included. As this was an observational study, routine clinical management by the referring GP was not altered. RESULTS: 68 patients were on proton pump inhibitor (PPI) therapy while 31 patients did not receive the treatment. In 58 patients endoscopy revealed no visible esophagitis. The frequency of heartburn was signific- antly associated with the presence of hiatal hernia but the frequency of reflux symptoms was not linked to the presence or severity of endoscopic lesions. Follow-up data > 2 month were available for 38 patients. Out of these 86.8% continued to have heartburn and 76.3% an acid taste after more than 2 months of treatment. The symptomatic response to PPI was significantly better (p0.05). 36% of patients reported a history of anxiety and depression but these disorders were not correlated with symptom frequency or response to PPI therapy. Conclusions: a) Frequency of GERD symptoms is not associated with severity of mucosal lesions; b) presence of a hiatal hernia is linked to more frequent symptoms; c) presence of a hiatal hernia predicts a favourable response to PPI therapy.Nora B. Zschau, William Tam, Jane M. Andrews, Richard H. Holloway, Mark Schoeman, Gerald J. Holtman

    Emotional face processing deficit in schizophrenia: A replication study in a South African Xhosa population

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    Schizophrenia is associated with a deficit in the recognition of negative emotions from facial expressions. The present study examined the universality of this finding by studying facial expression recognition in African Xhosa population. Forty-four Xhosa patients with schizophrenia and forty healthy controls were tested with a computerized task requiring rapid perceptual discrimination of matched positive (i.e. happy), negative (i.e. angry), and neutral faces. Patients were equally accurate as controls in recognizing happy faces but showed a marked impairment in recognition of angry faces. The impairment was particularly pronounced for high-intensity (open-mouth) angry faces. Patients also exhibited more false happy and angry responses to neutral faces than controls. No correlation between level of education or illness duration and emotion recognition was found but the deficit in the recognition of negative emotions was more pronounced in familial compared to non-familial cases of schizophrenia. These findings suggest that the deficit in the recognition of negative facial expressions may constitute a universal neurocognitive marker of schizophrenia. © 2006 Elsevier B.V. All rights reserved.Articl

    Deficits in facial affect recognition in unaffected siblings of Xhosa schizophrenia patients: Evidence for a neurocognitive endophenotype

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    The present study in an African Xhosa sample examined whether familial vulnerability to schizophrenia is associated with deficits in facial affect recognition. Healthy comparison subjects, unaffected siblings of schizophrenia patients, and schizophrenia patients were tested with a task requiring rapid recognition of matched positive (happy), negative (angry), and neutral facial expressions. Siblings and patients demonstrated impaired recognition of negative relative to positive facial expressions whereas comparison subjects recognized negative and positive expressions at an equal level of accuracy. These results suggest that deficits in the processing negative affect from social cues are transmitted in families and may represent a heritable endophenotype of schizophrenia. © 2007 Elsevier B.V. All rights reserved.Articl

    Karyotypic evolution in Malagasy flying foxes (Pteropodidae, Chiroptera) and their hipposiderid relatives as determined by comparative chromosome painting

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    Pteropodidae and Hipposideridae are 2 of the 9 chiropteran families that occur on Madagascar. Despite major advancements in the systematic study of the island’s bat fauna, few karyotypic data exist for endemic species. We utilized G- and C-banding in combination with chromosome painting with Myotis myotis probes to establish a genome-wide homology among Malagasy species belonging to the families Pteropodidae ( Pteropus rufus 2n = 38; Rousettus madagascariensis , 2n = 36), Hipposideridae ( Hipposideros commersoni s.s., 2n =52), and a single South African representative of the Rhinolophidae ( Rhinolophus clivosus , 2n = 58). Painting probes of M . myotis detected 26, 28, 28, and 29 regions of homology in R . madagascariensis , P . rufus , H . commersoni s.s, and R . clivosus, respectively. Translocations, pericentric inversions, and heterochromatin additions were responsible for karyotypic differences amongst the Malagasy pteropodids. Comparative chromosome painting revealed a novel pericentric inversion on P . rufus chromosome 4. Chromosomal characters suggest a close evolutionary relationship between Rousettus and Pteropus. H. commersoni s.s. shared several chromosomal characters with extralimital congeners but did not exhibit 2 chromosomal synapomorphies proposed for Hipposideridae. This study provides further insight into the ancestral karyotypes of pteropodid and hipposiderid bats and corroborates certain molecular phylogenetic hypotheses

    Cross-species chromosome painting in bats from Madagascar: The contribution of Myzopodidae to revealing ancestral syntenies in Chiroptera

    No full text
    The chiropteran fauna of Madagascar comprises eight of the 19 recognized families of bats, including the endemic Myzopodidae. While recent systematic studies of Malagasy bats have contributed to our understanding of the morphological and genetic diversity of the island's fauna, little is known about their cytosystematics. Here we investigate karyotypic relationships among four species, representing four families of Chiroptera endemic to the Malagasy region using cross-species chromosome painting with painting probes of Myotis myotis: Myzopodidae (Myzopoda aurita, 2=26), Molossidae (Mormopterus jugularis, 2=48), Miniopteridae (Miniopterus griveaudi, 2=46), and Vespertilionidae (Myotis goudoti, 2=44). This study represents the first time a member of the family Myzopodidae has been investigated using chromosome painting. Painting probes of M. myotis were used to delimit 29, 24, 23, and 22 homologous chromosomal segments in the genomes of M. aurita, M. jugularis, M. griveaudi, and M. goudoti, respectively. Comparison of GTG-banded homologous chromosomes/ chromosomal segments among the four species revealed the genome of M. aurita has been structured through 14 fusions of chromosomes and chromosomal segments of M. myotis chromosomes leading to a karyotype consisting solely of bi-armed chromosomes. In addition, chromosome painting revealed a novel X-autosome translocation in M. aurita. Comparison of our results with published chromosome maps provided further evidence for karyotypic conservatism within the genera Mormopterus, Miniopterus, and Myotis. Mapping of chromosomal rearrangements onto a molecular consensus phylogeny revealed ancestral syntenies shared between Myzopoda and other bat species of the infraorders Pteropodiformes and Vespertilioniformes. Our study provides further evidence for the involvement of Robertsonian (Rb) translocations and fusions/fissions in chromosomal evolution within Chiroptera. © 2010 Springer Science+Business Media B.V.Articl
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