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Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States

Genetics in Medicine 2023年第2期25卷 100330页

作者： Ream, Margie A. Lam, Wendy K.K. Grosse, Scott D. Ojodu, Jelili Jones, Elizabeth Prosser, Lisa A. Rosé, Angela M. Comeau, Anne Marie Tanksley, Susan Powell, Cynthia M. Kemper, Alex R. Division of Child Neurology Nationwide Children's Hospital Columbus OH United States Duke Clinical and Translational Science Institute Duke University School of Medicine Durham NC United States National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Atlanta GA Association of Public Health Laboratories Silver Spring MD United States Susan B. Meister Child Health Evaluation and Research Center Department of Pediatrics Michigan Medicine University of Michigan Ann Arbor MI United States New England Newborn Screening Program Department of Pediatrics UMass Chan School of Medicine Worcester MA Laboratory Services Section Texas Department of State Health Services Austin TX United States Division of Genetics and Metabolism Department of Pediatrics School of Medicine University of North Carolina at Chapel Hill Chapel Hill NC United States Department of Pediatrics Nationwide Children's Hospital Columbus OH United States

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is an X-linked condition caused by pathogenic variants in the iduronate-2-sulfatase gene. The resulting reduced activity of the enzyme iduronate-2-sulfatase leads to accumulation of glycosaminoglycans that can progressively affect multiple organ systems and impair neurologic development. In 2006, the US Food and Drug Administration approved idursulfase for intravenous enzyme replacement therapy for MPS II. After the data suggesting that early treatment is beneficial became available, 2 states, Illinois and Missouri, implemented MPS II newborn screening. Following a recommendation of the Advisory Committee on Heritable Disorders in Newborns and Children in February 2022, in August 2022, the US Secretary of Health and Human Services added MPS II to the Recommended Uniform Screening Panel, a list of conditions recommended for newborn screening. MPS II was added to the Recommended Uniform Screening Panel after a systematic evidence review reported the accuracy of screening, the benefit of presymptomatic treatment compared with usual case detection, and the feasibility of implementing MPS II newborn screening. This manuscript summarizes the findings of the evidence review that informed the Advisory Committee's decision. © 2022 American College of Medical Genetics and Genomics

关键词： ACHDNC Evidence review Hunter syndrome Mucopolysaccharidosis type II Newborn screening

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Parental lifestyle patterns around pregnancy and risk of childhood obesity in four European birth cohort studies

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The Lancet. Global health 2023年 11卷 S5页

作者： Lecorguillé, Marion Schipper, Mireille Aubert, Adrien M. Tafflet, Muriel Gassama, Malamine Douglass, Alexander Hébert, James R. Kelleher, Cecily Charles, Marie-Aline Phillips, Catherine M. Gaillard, Romy Lioret, Sandrine Heude, Barbara Center for Research in Epidemiology and Statistics National Institute of Health and Medical Research and National Research Institute for Agriculture Food and the Environment Paris France Generation R Study Group Erasmus University Medical Center Rotterdam Netherlands School of Public Health Physiotherapy and Sports Science University College Dublin Dublin Ireland UMS Elfe Team French Institute for Demographic Studies National Institute of Health and Medical Research French Blood Agency Aubervilliers France Cancer Prevention and Control Program and Department of Epidemiology and Biostatistics Arnold School of Public Health University of South Carolina Columbia SC USA Connecting Health Innovations Columbia SC USA Center for Research in Epidemiology and Statistics National Institute of Health and Medical Research and National Research Institute for Agriculture Food and the Environment Université Paris Cité and Université Sorbonne Paris Nord Paris France UMS Elfe Team French Institute for Demographic Studies National Institute of Health and Medical Research French Blood Agency Aubervilliers France

BACKGROUND: A high prevalence of excess weight in children younger than 5 years suggests the involvement of early-life risk factors. The preconception and pregnancy periods are crucial stages for the implementation of interventions to prevent childhood obesity. Most studies so far have evaluated the effects of early-life factors separately, with only a few investigating the combined effect of parental lifestyle factors. Our objective was to fill the literature gap regarding parental lifestyle factors in the preconception and pregnancy periods and to study their association with the risk of overweight in children after the age of 5 years. METHODS: We harmonised and interpreted data from four European mother-offspring cohorts (EDEN [comprising 1900 families], Elfe [comprising 18 000 families], Lifeways [comprising 1100 families], and Generation R [comprising 9500 families]). Written informed consent was obtained from parents of all involved children. Lifestyle factor data collected through questionnaires comprised parental smoking, BMI, gestational weight gain, diet, physical activity, and sedentary behaviour. We applied principal component analyses to identify multiple lifestyle patterns in preconception and pregnancy. Their association with child BMI z-score and risk of overweight (including obesity, overweight and obesity, as defined by the International Task Force reference) between the ages of 5 and 12 years were assessed using cohort-specific multivariable linear and logistic regression models (adjusted for confounders including parental age, education level, employment status, geographic origin, parity, and household income). FINDINGS: Among the various lifestyle patterns identified in all cohorts, the two that better explained variance were high parental smoking plus low maternal diet quality or high maternal sedentary behaviour, and high parental BMI plus low gestational weight gain. Overall, we observed that patterns characterised by high parental BMI, smoki

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Standardization of an Ambulatory Hand Hygiene Observation program

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American Journal of Infection control 2020年第8期48卷 S13-S14页

作者： Kimberly B. Wilson Karl Lane Grayson Privette Lauren N. Satchell Lauren F. Le Goff Lori Handy Hand Hygiene Program Manager Children's Hospital of Philadelphia Manager Enterprise Improvement Childrens Hospital of Philadelphia Infection Preventionist II Infection Prevention and Control Children's Hospital of Philadelphia Infection Prevention Associate II Children's Hospital of Philadelphia Infection Prevention Supervisor Childrens Hospital of Philadelphia Associate Medical Director Infection Prevention and Control Children's Hospital of Philadelphia

Background Hand hygiene (HH) is the single most important infection prevention practice to prevent the transmission of organisms to patients and employees in a healthcare setting. Hand hygiene compliance monitoring in our diverse pediatric ambulatory network has occurred since 2011 via staff observation or family feedback forms. A review of HH data collected in 2018 for 97 ambulatory locations raised concerns about data integrity and reliability. Methods In partnership with ambulatory network leaders, sixteen (16) locations were selected for targeted observations of the data collection process due to data integrity concerns including: data saturation due to over submission of observation data, consistent high compliance of sites, consistent low compliance of sites, failure to submit data, and incorrect submission of HH moments. Our HH program manager visited each site to interview and observe staff responsible for onsite HH monitoring. Results Each of the 16 locations had variable data collection processes. Targeted observations identified errors in the data submission process, an incomplete understanding of the number of observations to be performed, and inconsistencies in defining HH breaches. Qualitative interviews with staff elicited lack of formal training on how to observe, collect, and enter data. Staff also expressed discomfort providing feedback when HH breaches/misses are observed. A standard operating procedure (SOP) was developed to address inconsistency in knowledge and practice. Issues with submission and compliance inconsistencies were addressed through mistake proofing the database where collected HH data are submitted. Conclusions Comprehensive rounding of HH data collection across a diverse pediatric ambulatory network revealed need for standardized education and data collection methods and tools for ambulatory hand hygiene observers. Consistent communication and continued interfacing with staff and leadership has increased the capability of the co

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Randomised recruitment in estimating genital human papillomavirus prevalence - Authors' reply

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The Lancet. Global health 2024年第1期12卷 e31页

作者： Laia Bruni Ginesa Albero Jane Rowley Melanie Taylor Nathalie Broutet Cancer Epidemiology Research Program Catalan Institute of Oncology-IDIBELL L'Hospitalet de Llobregat Barcelona 08908 Spain Centro de Investigación Biomédica en Red: Epidemiología y Salud Pública (CIBERESP CB06/02/0073) Madrid Spain. Electronic address: lbruni@***. Centro de Investigación Biomédica en Red: Epidemiología y Salud Pública (CIBERESP CB06/02/0073) Madrid Spain. Department of Global HIV Hepatitis and Sexually Transmitted Infections Programmes World Health Organization Geneva Switzerland. Department of Global HIV Hepatitis and Sexually Transmitted Infections Programmes World Health Organization Geneva Switzerland Division of STD Prevention Centers for Disease Control and Prevention Atlanta GA USA. Department of Sexual and Reproductive Health and Research World Health Organization Geneva Switzerland.

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Investigating the mechanism of ceftazidime-avibactam resistance in addition to the effect of vancomycin on antibacterial resistance in carbapenem-resistant Klebsiella pneumonia

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Journal of Infection and Public Health 2020年第12期13卷 2115-2116页

作者： Sherri, Nour Rizk, Nesrine Fayad, Antoine Abou Harastani, Houda Mocadie, Michele Araj, George Matar, Ghassan M. Department of Experimental Pathology Immunology and Microbiology Faculty of Medicine American University of Beirut Beirut Lebanon Center for Infectious Diseases Research Lab Faculty of Medicine American University of Beirut Beirut Lebanon Division of Infectious Diseases Department of Internal Medicine Faculty of Medicine American University of Beirut Beirut Lebanon Infection Control and Prevention Program Faculty of Medicine American University of Beirut Beirut Lebanon Department of Pathology and Laboratory Medicine Faculty of Medicine American University of Beirut Beirut Lebanon

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595. Recovery of Clostridioides difficile Isolates from Cary-Blair Transport Medium Compared to No Transport Medium

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Open Forum Infectious Diseases 2023年第SUPPLEMENT_2期10卷

作者： Andrew M Skinner Laurica A Petrella Susan P Sambol Stuart Johnson Christopher A Czaja Helen Johnston Elizabeth Basiliere Robin Dhonau Lauren C Korhonen Ashley Paulick Michelle Adamczyk Alice Guh Amy Gargis Dale N Gerding University of Utah Holladay Utah Edward Hines Jr VA Hospital Hines Illinois Edward Hines Jr. VA Hospital Hines Illinois Hines VA Hospital and Loyola University Medical Center Hines Illinois Colorado Department of Public Health and Environment Denver Colorado Colorado Department of Public Health Denver Colorado Georgia Emerging Infections Program Decatur GA Emory University School of Medicine Atlanta GA Atlanta Veterans Affairs Medical Center Decatur GA Brookhaven Georgia CDC Atlanta Georgia Centers for Disease Control and Prevention Atlanta GA Centers for Disease Control &amp Prevnetion Atlanta GA Edward Hines Jr. Veterans Affairs Hospital Hines Illinois

Background Surveillance of C. difficile infection (CDI), one of the most common U.S. healthcare-associated infections, is essential to inform public health response, characterize strains causing disease, and describe changes in strain prevalence over time. The U.S. CDC’s Emerging Infections program (EIP) has conducted active CDI surveillance, including culturing of C. difficile from a convenience sample of stool samples from cases, since 2009. Cary-Blair transport medium (CBTM) is used by some clinical laboratories for stool testing, but little is known about its impact on the recovery of C. difficile from culture.

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Authors' Response

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Journal of the American College of Radiology : JACR 2022年第3期19卷 404-405页

作者： Erin A Hirsch Anna E Barón Betsy Risendal Jamie L Studts Melissa L New Stephen P Malkoski Division of Medical Oncology School of Medicine University of Colorado Anschutz Medical Campus Aurora Colorado. Electronic address: Erin.Hirsch@cuanschutz.edu. Department of Biostatistics and Informatics Colorado School of Public Health University of Colorado Anschutz Medical Campus Aurora Colorado. Department of Community and Behavioral Health Colorado School of Public Health University of Colorado Anschutz Medical Campus Aurora Colorado. Division of Medical Oncology and Cancer Prevention and Control Program University of Colorado Anschutz Medical Campus Aurora Colorado. Pulmonary Section Rocky Mountain Regional VA Medical Center Aurora Colorado and Division of Pulmonary Sciences and Critical Care Medicine University of Colorado Anschutz Medical Campus Aurora Colorado. Division of Pulmonary Sciences and Critical Care Medicine University of Colorado Anschutz Medical Campus Aurora Colorado Department of Medicine University of Washington WWAMI-Spokane Spokane Washington and Sound Critical Care Sacred Heart Medical Center Spokane Washington.

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Correction to: Efficacy and safety of artemether-lumefantrine and dihydroartemisinin-piperaquine for the treatment of uncomplicated Plasmodium falciparum malaria and prevalence of molecular markers associated with artemisinin and partner drug resistance in Uganda

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Malaria journal 2022年第1期21卷 37页

作者： Chris Ebong Asadu Sserwanga Jane Frances Namuganga James Kapisi Arthur Mpimbaza Samuel Gonahasa Victor Asua Sam Gudoi Ruth Kigozi James Tibenderana John Bosco Bwanika Agaba Bosco Denis Rubahika Daniel Kyabayinze Jimmy Opigo Damian Rutazana Gloria Sebikaari Kassahun Belay Mame Niang Eric S Halsey Leah F Moriarty Naomi W Lucchi Samaly S Svigel Souza Sam L Nsobya Moses R Kamya Adoke Yeka Infectious Diseases Research Collaboration Kampala Uganda. echochris2@***. Infectious Diseases Research Collaboration Kampala Uganda. USAID's Malaria Action Program for Districts Kampala Uganda. National Malaria Control Division Ministry of Health Uganda Kampala Uganda. U.S. President's Malaria Initiative Kampala Uganda. Malaria Branch Centers for Disease Control and Prevention & President's Malaria Initiative Atlanta GA USA. Makerere University College of Health Sciences Kampala Uganda.

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Correction to “Label-Free Quantitative Detection and Comparative Analysis of Lysine Acetylation during the Different Life Stages ofEimeria tenella”

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Journal of Proteome Research 2023年第1期23卷 510页

作者： Zhenxing Gong Zigang Qu Zhengqing Yu Jidong Li Baohong Liu Xueting Ma Jianping Cai College of Animal Science and Technology Ningxia University Yinchuan Ningxia Province 750021 People’s Republic of China State Key Laboratory of Veterinary Etiological Biology Key Laboratory of Veterinary Parasitology of Gansu Province Innovation of Research Program of Gastrointestinal Infection and Mucosal Immunity of Poultry and Pig Lanzhou Veterinary Research Institute Chinese Academy of Agricultural Sciences Lanzhou Gansu Province 730046 People’s Republic of China Jiangsu Co-Innovation Center for Prevention and Control of Animal Infectious Diseases and Zoonoses Yangzhou Jiangsu Province 225009 People’s Republic of China

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2296. Trends in reasons for hospital admission among adults ≥18 years hospitalized with laboratory-confirmed SARS-CoV-2 infection—COVID-19-Associated Hospitalization Surveillance Network (COVID-NET), 14 U.S. States, June 2020 – January 2023

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Open Forum Infectious Diseases 2023年第SUPPLEMENT_2期10卷

作者： Fiona P Havers Michael Whitaker Monica E Patton Michael Melgar Art Reingold Nisha B Alden Daewi Kim Kyle P Openo Andy Weigel Patricia A Ryan Libby Reeg Kathryn Como-Sabetti Adrienne Domen Grant Barney Kevin Popham Eli Shiltz Melissa Sutton H Keipp Talbot Melanie Crossland Christopher Taylor CDC Atlanta Georgia Centers for Disease Control and Prevention Atlanta Georgia University of California Berkeley Berkeley CA Colorado Department of Public Health and Environment Denver Colorado Yale CT Emerging Infections Program New Haven Connecticut Georgia Emerging Infections Program and Atlanta VA Medical Center Decatur GA Iowa Department of Public Health Des Moines Iowa Maryland Department of Health Baltimore Maryland Michigan Department of Health and Human Services Lansing Michigan Minnesota Department of Health St Paul Minnesota University of New Mexico Emerging Infections Program Albuquerque New Mexico New York State Department of Health Albany New York Universirty of Rochester Rochester New York Ohio Department of Health Columbus Ohio Oregon Health Authority Portland Oregon Vanderbilt University Medical Center Nashville Tennessee Salt Lake County Health Department Salt Lake City Utah

Background During the COVID-19 pandemic, hospitals performed widespread screening for SARS-CoV-2, resulting in identification of asymptomatic or mildly ill persons with SARS-CoV-2 who were admitted for other reasons. We examined trends in reasons for admission to identify hospitalized adults with a positive SARS-CoV-2 test likely admitted for COVID-19-related illness.

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