Results 201 to 210 of about 7,301,955 (359)

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

A Retrospective Study of Invasive Candidiasis in a Tertiary Teaching Hospital. [PDF]

Cureus
Dave P, Mishra I, Bhatia G.
europepmc   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

HOSPITAL TEACHING

Academic Medicine, 1927
openaire   +2 more sources

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Phenotypic and Genotypic Profile of Enterobacteriaceae Isolated at a Teaching Hospital in Ghana. [PDF]

Microbiologyopen
Donkor B, Mills RO, Mwintige P, Moses AB, Brown AA, Halm-Lai F, Hagan OCK.   +6 more
europepmc   +1 more source

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source

Clinical Audit of Enteric Fever Diagnostic Practices at Kosti Teaching Hospital: A Retrospective Evaluation. [PDF]

Cureus
Imad Z, Malik MFK, Kalol MMA, Elsiddig JEA, Yassin AYM, Yoseif AS, Ibrahim BOB, Saeed AAM, Didi EMA, Ibrahim MMA, Fadalalmoula EEA, Awad M, Ahmed TAM.   +12 more
europepmc   +1 more source

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source

Prevalence and risk factors of birth asphyxia at Livingstone University teaching hospital. [PDF]

PLOS Glob Public Health
Ngongo NN, Sichamba P, Chishala N, Chibeka MD, Chimba M, Kacha S, Simutowe K, Mulambo P, Riwo EO, Baines SM, Kurehwatira KR, Hatwiko H, Siakabanze C, Luwaya EL, Mutengo KH, Siame L, Mweene BC, Chakulya M, Povia JP, Masenga SK.   +19 more
europepmc   +1 more source