Horner syndrome in a pediatric patient
Horner syndrome (HS) is a rare neurological disorder arising from disruption of the oculosympathetic pathway. paediatric HS is uncommon and may be congenital, however it is imperative that underlying sinister causes are excluded. ABSTRACT Introduction Horner syndrome (HS) is a rare neurological disorder arising from disruption of the oculosympathetic ...
Devansh Tandon+4 more
wiley +1 more source
Dental management of oral self-mutilation in neurological patients : a case of congenital insensitivity to pain with anhidrosis [PDF]
Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital ...
García Recuero, Ignacio Ismael+3 more
core
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families [PDF]
Yoshiko Miura+6 more
+5 more sources
Fibers and fabrics for chemical and biological sensing [PDF]
Wearable sensors can be used to monitor many interesting parameters about the wearer’s physiology and environment, with important applications in personal health and well-being, sports performance and personal safety.
Benito-Lopez, Fernando+4 more
core
Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley +1 more source
Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]
Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando+4 more
core
Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]
In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen+3 more
core +1 more source
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol+2 more
wiley +1 more source
Skin Signs of Systemic Disease [PDF]
The subject of this Mcguire Lecture series, the skin, is a relatively enormous organ vulnerable to an enormous variety of external and internal insults. Its total visibility is both a blessing and a curse.
Scoggins, Robert B.
core +2 more sources
Effectiveness of Total Hip Arthroplasty Combined With Hip Braces for Hip Charcot Arthropathy
This study evaluates the efficacy of Total Hip Arthroplasty combined with Hip Braces in patients with Charcot arthropathy. Assessment indicators such as VAS score, Oxford Hip Score, and UCLA score demonstrate significant improvements in hip joint function post‐surgery. Key complications include hip dislocation and acetabular component loosening.
Long‐Teng Chao+8 more
wiley +1 more source