Results 231 to 240 of about 1,083,474 (350)

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

Proposed approaches for public health surveillance: A literature review for the Canadian National HIV Surveillance Program. [PDF]

Can Commun Dis Rep
Robert A, Martin W, Jonah L, Paquette D, Cox J, Thompson LH.   +5 more
europepmc   +1 more source

Methodological Evaluation of Public Health Surveillance Systems in Rwanda: Assessing Risk Reduction Using Difference-in-Differences Analysis

, 2015
Bashirizi Karekezi, Nyiramirutsabe Mugisha, Kizito Mutabazi, Hutakura Uwimbabwira   +3 more
openalex   +1 more source

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

Public health surveillance of tropical diseases in Madagascar: a scoping review of population burden, intervention strategies, and health system responses. [PDF]

BMC Public Health
Rajaofera MJN, Liu W, Tomboanona S, Reziky AM, Kuang D, Xia Q.   +5 more
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

Trends and distribution of birth asphyxia, Uganda, 2017-2020: a retrospective analysis of public health surveillance data. [PDF]

Afr Health Sci
Komakech A, Aceng FL, Migamba SM, Nakamya P, Mutumba R, Bulage L, Kwesiga B, Ario AR.   +7 more
europepmc   +1 more source

Methodological Evaluation of Public Health Surveillance Systems in Tanzania: Panel Data Estimation for Efficiency Gains

, 2010
Kabvina Magogo, Mwakagilah Kamanga, Manenzhi Chituwo, Tumbo Mwanza   +3 more
openalex   +1 more source

National and International Monitoring of Student Literacy and Numeracy Attainment: The Case for Rigorous Macro and Micro Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT In her 2024 paper Are Australian students' academic skills declining? Interrogating 25 years of national and international standardised assessment data, Larsen compiled an impressive summary of major international (PISA, PIRLS and TIMSS) and national (NAPLAN) standardised assessments pertaining to literacy and numeracy.
Pamela C. Snow, Tanya A. Serry, Jennifer Buckingham, Lorraine S. Hammond, Stephen Dinham, Eamon Charles, Tessa A. Weadman, Nathanial R. Swain, Susan Hiland, Tessa Daffern   +9 more
wiley   +1 more source

Right-restricting measures implemented by Public Health Surveillance services during the COVID-19 pandemic: a systematic review protocol. [PDF]

BMJ Open
Vivas MD, Correia T, Bragagnolo L, da Silva IAL, Tureck F, Santos R, Kielmann S, do Carmo D, Avarca C, da Silva F, Paes M, Tofani LFN, Chioro A.   +12 more
europepmc   +1 more source