Results 161 to 170 of about 346,283 (289)

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson   +10 more
wiley   +1 more source

The deposition - a modern phenomenon in the evaluation of inhalation risk of mining aerosols [PDF]

open access: yes, 2007
The deposition is defined as an array of processes causing a part of the inhaled aerosol to remain (after its expiration) in the respiratory tract. The particles retained in the respiratory tract are called deposits.
Ľubomír Legáth
core  

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron   +8 more
wiley   +1 more source

PAF‐induced inflammatory and immuno‐allergic ophthalmic diseases and their mitigation with PAF receptor antagonists: Cell and nuclear effects

open access: yesBioFactors, Volume 48, Issue 6, Page 1226-1249, November/December 2022., 2022
Abstract Ocular allergies are becoming more prevalent as more airborne pollutants, irritants and microbes pervade our environment. Inflammatory and allergic mediators released by dendritic and mast cells within the conjunctiva cause allergic conjunctivitis (AC), a prevalent ocular surface disorder that affects >40% of the world's human population on a ...
Najam A. Sharif
wiley   +1 more source

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi   +7 more
wiley   +1 more source

Azithromycin for Recurrent Respiratory Tract Infections in Pediatric Populations [PDF]

open access: yes
Background: Severe lower respiratory tract infections in pediatric populations result in millions of hospitalizations worldwide. Some children experience recurrent symptoms and progressive episodes multiple times a year. Azithromycin has demonstrated not
Pino, Mikala Guadalupe
core   +1 more source

Prevalence and Outpatient Clinical Diagnostic Approaches for Common Acute Respiratory Tract Infections in Children Under Five Years of Age: A Cross-Sectional Study

open access: yesPediatric Health, Medicine and Therapeutics
Munanura Turyasiima,1,2 Gloria Kiconco,1,3 Walufu Ivan Egesa,4 Sabinah Twesigemukama,1 Martin Nduwimana1 1Department of Pediatrics and Child Health, Kampala International University, Kampala, Uganda; 2Department of Standards Compliance Accreditation and ...
Turyasiima M   +4 more
doaj  

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