Results 181 to 190 of about 247,985 (305)

Fulminant Eye Infection in a Patient With Nephrotic Syndrome: A Case Report. [PDF]

Cureus
Kulkarni AS, Thool AR, Daigavane S.
europepmc   +1 more source

Understanding Acanthamoeba Keratitis: An In-Depth Review of a Sight-Threatening Eye Infection. [PDF]

Microorganisms
Petrillo F, Tortori A, Vallino V, Galdiero M, Fea AM, De Sanctis U, Reibaldi M.   +6 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

An overview of pink eye infection to evaluate its medications: group decision-making approach with 2-tuple linguistic T-spherical fuzzy WASPAS method. [PDF]

Front Artif Intell
Rasheed MW, Y Saleh H, Salih AA, Karamat J, Bilal M.   +4 more
europepmc   +1 more source

Molecular Diagnosis of Human Taenia martis Eye Infection. [PDF]

Am J Trop Med Hyg, 2016
Koch T, Schoen C, Muntau B, Addo M, Ostertag H, Wiechens B, Tappe D.   +6 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Isolation and identification of aerobic bacteria associated with eye infection in human

, 2003
This study was concerned primarily with the isolation and identification of aerobic bacteria associated with human ocular infection in Khartoum State.
Abdul Rahman, Salma
core  

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Microsporidian eye infection from outdoor recreational activities. [PDF]

J Clin Microbiol, 2015
Chan KS, Koh TH.
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source