Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report
Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years.
Farzad Ashrafi +3 more
doaj +1 more source
Primary Coenzyme Q10 Deficiency [PDF]
open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara +3 more
core
Cerebral Cortex Morphometry and Relaxometry in Male Children With Fragile X Syndrome and Autism
In this study, regions of the cortex highlighted in shades of blue indicate children with fragile X syndrome have increased cortical thickness compared to children with autism spectrum disorder. ABSTRACT Purpose An estimated 30%–50% of male individuals with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), indicating phenotypic
Jose M. Guerrero‐Gonzalez +5 more
wiley +1 more source
Advances in biotechnology: genomics and genome editing [PDF]
Genomics, the study of genes, their functions and related techniques has become a crucial science for developing understanding of life processes and how they evolve.
Beccari, Tommaso +4 more
core +1 more source
Mitochondrial Transfer in the Tumor Microenvironment
Mitochondria are actively exchanged among tumor, immune, stromal, and neuronal cells within the tumor microenvironment. Such transfer rewires tumor metabolism, promotes immune evasion, and drives therapy resistance. Targeting mitochondrial transfer or harnessing mitochondrial transplantation represents a promising strategy to restore antitumor immunity
Ryo Omae +2 more
wiley +1 more source
Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report
Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years.
Farzad Ashrafi +3 more
doaj +1 more source
Anesthetic Management of Leigh Syndrome
Leigh syndrome is an extremely rare disorder in infants and children. It is characterized by a progressive neurodegenerative course with subacute necrotizing encephalomyelopathy, and it presents with developmental delay, seizures, dysarthria, ataxia, and
Ayşe Çiğdem TÜTÜNCÜ +2 more
doaj +1 more source
A boy or a girl? : Parental, family and whanau information needs when a child is born with an intersex/DSD condition : a thesis presented in fulfilment of the requirements for the degree of MPHIL in Nursing at Massey University, Auckland, New Zealand [PDF]
Is it a girl or a boy? This is a question that new parents assume will be answered at the birth, or even in the months leading up to the birth of their baby.
McCarthy, Gabrielle Leigh
core
Early Infantile Leigh-like Gene Defects Have a Poor Prognosis: Report and Review
Solute carrier family 19 (thiamine transporter), member 3 ( SCL19A3 ) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms.
Majid Alfadhel
doaj +1 more source
Transient rapamycin treatment can increase lifespan and healthspan in middle-aged mice [PDF]
The FDA approved drug rapamycin increases lifespan in rodents and delays age-related dysfunction in rodents and humans. Nevertheless, important questions remain regarding the optimal dose, duration, and mechanisms of action in the context of healthy ...
Anderson +33 more
core +1 more source

