Results 191 to 200 of about 484,410 (284)

Effectiveness and challenges of digital tools implementation for enhancing infectious disease surveillance data quality in low- and middle-income countries: A systematic review protocol. [PDF]

PLoS One
Olu-Abiodun O, Faturoti A, Adepoju A, Adeloye D, Adebiyi A, Abiodun O.   +5 more
europepmc   +1 more source

Infectious mononucleosis, other infections and prostate-specific antigen concentration as a marker of prostate involvement during infection [PDF]

, 2016
Aksoy, Alanen, Ascherio, Ayatollahi, Banez, Basch, Bergh, Berrington de Gonzalez, Borgermann, Bosch, Carter, Catalona, Chen, Elgamal, Fan, Fedewa, Grinstein, Hasui, Heidenreich, Joshi, Kadayifci, Kadayifci, Kilic, Krystyna, Kuller, Kutok, Lilja, Luzuriaga, Malavaud, Mandel, Moyer, Olsson, Oremek, Rickinson, Rubertone, Sfanos, Silverberg, Sindhwani, Smith, Stamey, Sutcliffe, Sutcliffe, Sutcliffe, Tchetgen, Whitaker, Whittemore, Wolf   +46 more
core   +2 more sources

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Advances in whole genome sequencing for foodborne pathogens: implications for clinical infectious disease surveillance and public health. [PDF]

Front Cell Infect Microbiol
Gomes E, Araújo D, Nogueira T, Oliveira R, Silva S, Oliveira LVN, Azevedo NF, Almeida C, Castro J.   +8 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Infectious disease surveillance update [PDF]

The Lancet Infectious Diseases, 2019
openaire   +2 more sources

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Clean Cut (adaptive, multimodal surgical infection prevention programme) for low‐resource settings: a prospective quality improvement study

BJS (British Journal of Surgery), EarlyView., 2020
Clean Cut is a multimodal, adaptive, checklist‐based infection prevention programme designed to improve compliance with six critical perioperative infection prevention practices. After introducing the programme at five hospitals in Ethiopia, compliance with critical infection prevention standards significantly improved and the relative risk of ...
J. A. Forrester, N. Starr, T. Negussie, D. Schaps, M. Adem, S. Alemu, D. Amenu, N. Gebeyehu, T. Habteyohannes, F. Jiru, A. Tesfaye, E. Wayessa, R. Chen, A. Trickey, S. Bitew, A. Bekele, T. G. Weiser   +16 more
wiley   +1 more source

Artificial intelligence enhanced infectious disease surveillance - A call for global collaboration. [PDF]

New Microbes New Infect
Suvvari TK, Kandi V.
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source