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991.
Evelien Urbanus Hanna Swaab Nicole Tartaglia Lisa Cordeiro Sophie van Rijn 《American journal of medical genetics. Part C, Seminars in medical genetics》2020,184(2):444-455
Children with SCT have an increased risk of suboptimal neurodevelopment. Previous studies have shown an elevated risk for neurobehavioral problems in individuals with SCT. However, not much is known about neurobehavioral problems in very young children; knowledge that could help with early identification of children at risk for suboptimal development, and that could help establish targets for early intervention. This study addressed the question of what the behavioral profile of children with SCT aged 1–5 years looks like. In total, 182 children aged 1–5 years participated in this study (NSCT=87, Nnonclinical controls = 95). Recruitment and assessment took place in the Netherlands and the United States. The SCT group was recruited through prospective follow‐up (50%), information seeking parents (31%), and clinical referral (18%). Behavioral profiles were assessed with the child behavior checklist and the ages‐and‐stages social–emotional questionnaire. Levels of parent‐rated problem behavior were higher in children with SCT. Difficulties with overall social–emotional functioning were already present in 1‐year‐olds, and elevated scores were persistent across the full age range. Affective and pervasive developmental behaviors were seen in late toddlerhood and prominent at preschool age. Anxiety, attention deficit, and oppositional defiant behaviors were seen in preschool‐aged children. Within this cross‐sectional study, the developmental trajectory of affective, pervasive developmental, and oppositional defiant behaviors seemed to be different for SCT children than nonclinical controls. Collectively, these results demonstrate the importance of behavioral screening for behavioral problems in routine clinical care for children with SCT from a young age. Social–emotional problems may require special attention, as these problems seem most prominent, showing increased risk across the full age range, and with these problems occurring regardless of the timing of diagnosis, and across all three SCT karyotypes. 相似文献
992.
Richard Gallon Harsh Sheth Christine Hayes Lisa Redford Ghanim Alhilal Ottilia O'Brien Helena Spiewak Amanda Waltham Ciaron McAnulty Osagie G. Izuogu Mark J. Arends Anca Oniscu Angel M. Alonso Sira M. Laguna Gillian M. Borthwick Mauro Santibanez‐Koref Michael S. Jackson John Burn 《Human mutation》2020,41(1):332-341
Microsatellite instability (MSI) testing of colorectal cancers (CRCs) is used to screen for Lynch syndrome (LS), a hereditary cancer‐predisposition, and can be used to predict response to immunotherapy. Here, we present a single‐molecule molecular inversion probe and sequencing‐based MSI assay and demonstrate its clinical validity according to existing guidelines. We amplified 24 microsatellites in multiplex and trained a classifier using 98 CRCs, which accommodates marker specific sensitivities to MSI. Sample classification achieved 100% concordance with the MSI Analysis System v1.2 (Promega) in three independent cohorts, totaling 220 CRCs. Backward–forward stepwise selection was used to identify a 6‐marker subset of equal accuracy to the 24‐marker panel. Assessment of assay detection limits showed that the 24‐marker panel is marginally more robust to sample variables than the 6‐marker subset, detecting as little as 3% high levels of MSI DNA in sample mixtures, and requiring a minimum of 10 template molecules to be sequenced per marker for >95% accuracy. BRAF c.1799 mutation analysis was also included to streamline LS testing, with all c.1799T>A variants being correctly identified. The assay, therefore, provides a cheap, robust, automatable, and scalable MSI test with internal quality controls, suitable for clinical cancer diagnostics. 相似文献
993.
Samantha J. Bryen Lisa J. Ewans Jason Pinner Suzanna C. MacLennan Sandra Donkervoort Diana Castro Ana Tpf Gina O'Grady Beryl Cummings Katherine R. Chao Ben Weisburd Laurent Francioli Fathimath Faiz Adam M. Bournazos Ying Hu Carla Grosmann Denise M. Malicki Helen Doyle Nanna Witting John Vissing Kristl G. Claeys Kathryn Urankar Ana Beleza‐Meireles Julia Baptista Sian Ellard Marco Savarese Mridul Johari Anna Vihola Bjarne Udd Anirban Majumdar Volker Straub Carsten G. Bnnemann Daniel G. MacArthur Mark R. Davis Sandra T. Cooper 《Human mutation》2020,41(2):403-411
994.
Lisa Bayliss-Pratt RN DClinP MSC PGCE BSc Matthew Daley RN BN PGDip ACC Adrita Bhattacharya-Craven MSc 《International nursing review》2020,67(1):7-10
Global healthcare expenditure is increasing, along with the numbers of older patients with multiple comorbidities, while the numbers of health workers are hugely decreasing, and many nursing and midwifery vacancies remain unfilled. With the World Health Organization declaring 2020 the Year of the Nurse and Midwife, and commencing the Nursing Now campaign with partners including the International Council of Nurses and the International Confederation of Midwives, has allowed these professions to unite, encourage advocacy and the call for global investment in nursing and midwifery. These actions will permit these professions to address universal health coverage, global inconsistencies of professional practice, and recruitment and retention. The Nightingale Challenge seeks to place early career nurses and midwives at the forefront of transformation, calling on employers worldwide to invest and provide nursing leadership development, and to become a key part of the solution to address the issues of providing universal health coverage, promoting gender equality and supporting economic growth. This will help place them at the heart of tackling 21st century health challenges. 相似文献
995.
Stephen J. Salipante Daniel R. Hoogestraat April N. Abbott Dhruba J. SenGupta Lisa A. Cummings Susan M. Butler-Wu Karen Stephens Brad T. Cookson Noah G. Hoffman 《Journal of clinical microbiology》2014,52(5):1789-1792
Some bacterial infections involve potentially complex mixtures of species that can now be distinguished using next-generation DNA sequencing. We present a case of mastoiditis where Gram stain, culture, and molecular diagnosis were nondiagnostic or discrepant. Next-generation sequencing implicated coinfection of Fusobacterium nucleatum and Actinomyces israelii, resolving these diagnostic discrepancies. 相似文献
996.
Beth H. Vogel Vincent Bonagura Geoffrey A. Weinberg Mark Ballow Jason Isabelle Lisa DiAntonio April Parker Allison Young Charlotte Cunningham-Rundles Chin-To Fong Jocelyn Celestin Heather Lehman Arye Rubinstein Subhadra Siegel Leonard Weiner Carlos Saavedra-Matiz Denise M. Kay Michele Caggana 《Journal of clinical immunology》2014,34(3):289-303
Purpose
To describe the process and assess outcomes for the first 2 years of newborn screening for severe combined immunodeficiency (SCID NBS) in New York State (NYS).Methods
The NYS algorithm utilizes a first-tier molecular screen for TRECs (T-cell receptor excision circles), the absence of which is indicative of increased risk of immunodeficiency.Results
During the first 2 years, 485,912 infants were screened for SCID. Repeat specimens were requested from 561 premature and 746 non-premature infants with low or borderline TRECs. A total of 531 infants were referred for diagnostic evaluation leading to identification of 10 infants with SCID and 87 with a clinically significant non-SCID abnormality based on flow cytometry or CBC results (positive predictive value 20.3 %). Nine infants were diagnosed with typical SCID and one with leaky SCID. SCID diagnoses included two patients with adenosine deaminase deficiency, three patients with typical and one with leaky IL2RG-related SCID, one patient with IL7Rα-related SCID, and three cases of typical SCID, etiology unknown. TRECs were undetectable in eight of the nine babies with typical SCID. Infants with other non-SCID conditions included 27 patients with a syndrome that included T-cell impairment, 18 of which had DiGeorge syndrome. Seventeen infants had T-cell impairment secondary to another clinically significant condition, and 13 were classified as ‘other’. Among 30 infants classified as idiopathic T-cell lymphopenia, 11 have since resolved, and the remainder continues to be followed. One infant with undetectable TRECs had normal follow-up studies. Molecular studies revealed the presence of two changes in the infant’s DNA.Conclusions
Overall, ten infants with SCID were identified during the first 2 years of screening in NYS, yielding an incidence of approximately 1 in 48,500 live births, which is consistent with the incidence observed by other states screening for SCID. The incidence of any clinically significant laboratory abnormality was approximately 1 in 5,000; both estimates are higher than estimates prior to the onset of newborn screening for SCID. Improvements to the NYS algorithm included the addition of a borderline category that reduced the proportion of infants referred for flow cytometric analysis, without decreasing sensitivity. We identified a large number of infants with abnormal TRECs and subsequent idiopathic T-cell lymphopenia. Long-term follow-up studies are needed to determine the prognosis and optimal treatment for this group of patients, some of whom may present with previously unrecognized, transient lymphopenia of infancy. 相似文献997.
John Routes Mario Abinun Waleed Al-Herz Jacinta Bustamante Antonio Condino-Neto Maria Teresa De La Morena Amos Etzioni Eleonora Gambineri Elie Haddad Lisa Kobrynski Francoise Le Deist Shigeaki Nonoyama Joao Bosco Oliveira Elena Perez Capucine Picard Nima Rezaei John Sleasman Kathleen E. Sullivan Troy Torgerson 《Journal of clinical immunology》2014,34(4):398-424
Primary immunodeficiencies are intrinsic defects in the immune system that result in a predisposition to infection and are frequently accompanied by a propensity to autoimmunity and/or immunedysregulation. Primary immunodeficiencies can be divided into innate immunodeficiencies, phagocytic deficiencies, complement deficiencies, disorders of T cells and B cells (combined immunodeficiencies), antibody deficiencies and immunodeficiencies associated with syndromes. Diseases of immune dysregulation and autoinflammatory disorder are many times also included although the immunodeficiency in these disorders are often secondary to the autoimmunity or immune dysregulation and/or secondary immunosuppression used to control these disorders. Congenital primary immunodeficiencies typically manifest early in life although delayed onset are increasingly recognized. The early diagnosis of congenital immunodeficiencies is essential for optimal management and improved outcomes. In this International Consensus (ICON) document, we provide the salient features of the most common congenital immunodeficiencies. 相似文献
998.
Karen A. Ertel Marushka Silveira Penelope Pekow Barry Braun JoAnn E. Manson Caren G. Solomon Glenn Markenson Lisa Chasan-Taber 《Archives of women's mental health》2014,17(1):65-72
The aim of this study is to prospectively examine the association between maternal depressive symptoms in early pregnancy and risk of abnormal glucose tolerance (AGT) and impaired glucose tolerance (IGT) in mid-pregnancy. We evaluated this association among 934 participants in Proyecto Buena Salud, a prospective cohort study of Hispanic (predominantly Puerto Rican) women in Western Massachusetts. Depressive symptoms were assessed in early pregnancy using the 10-item Edinburgh Postnatal Depression Scale. Scores ≥13 indicated at least probable minor depression and scores ≥15 indicated probable major depression. AGT and IGT were diagnosed using American Diabetes Association criteria. In early pregnancy, 247 (26.5 %) participants experienced at least minor depression and 163 (17.4 %) experienced major depression. A total of 123 (13.2 %) were classified with AGT and 56 (6.0 %) were classified with IGT. In fully-adjusted models, the odds ratio for AGT associated with minor depression was 1.20 (95 % CI 0.77–1.89) and for major depression was 1.34 (95 % CI 0.81–2.23). The odds ratio for IGT associated with minor depression was 1.22 (95 % CI 0.62–2.40) and for major depression was 1.53 (95 % CI 0.73–3.22). We did not observe an association with continuous screening glucose measures. Findings in this prospective cohort of Hispanic women did not indicate a statistically significant association between minor or major depression in early pregnancy and AGT or screening glucose values in mid-pregnancy. Due to the small number of cases of IGT, our ability to evaluate the association between depression and IGT risk was constrained. 相似文献
999.
Lisa Harlow Bernadette R. Gochuico Ivan O. Rosas Tracy J. Doyle Juan C. Osorio Timothy S. Travers Carlos C. Camacho Chester V. Oddis Dana P. Ascherman 《Clinical immunology (Orlando, Fla.)》2014,155(1):60-70
Previous work has demonstrated a correlation between serum anti-citrullinated HSP90 antibodies and rheumatoid arthritis-associated interstitial lung disease (RA-ILD). To further investigate this potential pathogenic relationship, we used ELISA-based techniques to assess anti-citrullinated HSP90 antibody profiles in bronchoalveolar lavage fluid (BALF) of patients with different stages of RA-ILD. 9/21 RA-derived BALF specimens demonstrated IgG and/or IgA antibodies targeting citrullinated HSP90 proteins/peptides, highlighting disease specific responses (with a predilection for RA-ILD) that did not occur in IPF patients (0/5) or healthy control subjects (0/5). Comparison of antibody profiles between BALF and matching serum specimens revealed various recognition patterns favoring predominant production of anti-citrullinated HSP90 antibodies within the lung microenvironment—further supporting the connection between this antibody specificity and parenchymal lung disease. Equally important, qualitative as well as quantitative differences in anti-citrullinated HSP90 profiles between BALF and serum indicate that the lung plays a direct role in shaping the immune repertoire of RA/RA-ILD. 相似文献
1000.
Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask‐like facial syndrome 下载免费PDF全文