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Biallelic Hypomorphic Mutations In A Linear Deubiquitinase Define Otulipenia, An Early-Onset Autoinflammatory Disease
(Natl Acad Sciences, 2016)
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a ...
Bone Mineral Density in Adolescent Girls with Hypogonadotropic and Hypergonadotropic Hypogonadism
(2016)
Objective: Deficiency of sex steroids has a negative impact on bone mineral content. In studies conducted on postmenopausal women and animal studies, elevated follicle-stimulating hormone (FSH) levels were found to be ...
Comparison Of The Efficacy Of Once- And Twice-Daily Colchicine Dosage In Pediatric Patients With Familial Mediterranean Fever – A Randomized Controlled Noninferiority Trial
(2016)
Background In this study, we examined the efficacy and safety of a once-daily dosage schema of colchicine compared with a twice-daily dosage schema in pediatric patients with familial Mediterranean fever (FMF). Methods In ...
Congenital Mirror Movements In Gorlin Syndrome: A Case Report With Dti And Functional Mri Features
(Amer Acad Pediatrics, 2016)
Congenital mirror movements are rare conditions that define the inability to perform unimanual movements. Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with multiple nevi ...
Bacteremia Caused By Rothia Mucilaginosa After Pneumonia, in A Patient with Hematopoietic Stem Cell Transplantation
(Soc Argentina Pediatria, 2016)
Rothia muciloginosa is a member of normal flora and rarely causes invasive disease. Immunosupressed patients have increased risk for severe infection. Here, we report a male patient with relapsed neuroblastoma hospitalized ...
Cortical-Bone Fragility - Insights From Sfrp4 Deficiency In Pyle'S Disease
(Massachusetts Medical Soc, 2016)
BACKGROUND Cortical-bone fragility is a common feature in osteoporosis that is linked to non-vertebral fractures. Regulation of cortical-bone homeostasis has proved elusive. The study of genetic disorders of the skeleton ...
Diagnostic And Management Practices for Phenylketonuria iin 19 Countries of The South And Eastern European Region: Survey Results
(2016)
To avoid potentially severe outcomes, phenylketonuria (PKU) must be detected as soon as possible after birth and managed with life-long treatment. A questionnaire-based survey was performed to document diagnosis and ...
Diagnosis Of Cystic Fibrosis With Chloride Meter (Sherwood M926S Chloride Analyzer (R)) And Sweat Test Analysis System (Cf Delta Collection System (R)) Compared To The Gibson Cooke Method
(Turkish J Pediatrics, 2016)
Sweat test with Gibson Cooke (GC) method is the diagnostic gold standard for cystic fibrosis (CF). Recently, alternative methods have been introduced to simplify both the collection and analysis of sweat samples. Our aim ...