Presentation
Full-color medical illustrations present key anatomic details in a clear manner. Thousands of digital-quality images depict the complete range of normal and abnormal imaging presentations. [books.google.de]
Thedisease was found to be linked to mutations in the transmem-brane protein 16E in the locus 11p14.3-15.1.3,4 Characteristicallythe disease has presented in early childhood with jaw lesions.These jaw lesions usually present with pain, swelling anddischarge [docslide.net]
The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including [books.google.com]
At the present time there are numerous genes that when mutated and inherited in a dominant or recessive manner can produce OI. [radiologykey.com]
Mass: A chronic/subacute presentation can manifest as a popliteal fossa mass or with pain. [samedical.blogspot.com]
Eyes
- Diplopia
Feature = diplopia with gaze paralysis Diffuse lewy body disease Dementia and movement disorder. Lewy bodies in substantia nigra and cortex. Distinguished from late-stage parkinson's (which also has lewy bodies in cortex and SN) by the timing. [quizlet.com]
Musculoskeletal
- Osteoporosis
A small proportion of children who experience multiple fractures have osteoporosis, either from a genetic bone disorder (primary osteoporosis) or secondary to another underlying medical condition (secondary osteoporosis). [karger.com]
New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included. [books.google.com]
These conditions are Bruck syndrome,familial calvarial doughnut lesions with osteoporosis, osteoporosispseudoglioma syndrome and gnathodiaphyseal dysplasia. [docslide.net]
[…] of usually difficult to find information on the investigation of pediatric bone disease and reference values Covers both the physiology of bone and mineral homeostasis in children and diseases in one book Inhalt Chapter 18 The Spectrum of Pediatric Osteoporosis [books.google.de]
Additional features include generalized osteoporosis with bone fragility, diaphyseal undermodeling of bones, and multiple dentigerous cysts, with fibrous tissue cysts surrounding the roots of teeth. [rrnursingschool.biz]
Psychiatrical
- Suggestibility
Bone histomorphometry suggested an increased osteoid surface. Osteoid volume was also slightly increased. The pathological findings of the mass in the jaw in the latter patient were consistent with it being a fibro-osseous lesion. [ncbi.nlm.nih.gov]
Widening of the rib necks at other sites suggests additional old healed fractures. D, AP view of the chest at 10 months of age reveals minimal residual rib deformities. [radiologykey.com]
Treatment
Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options. [books.google.com]
Munns CF, Cowell CT: Prevention and treatment of osteoporosis in chronically ill children. J Musculoskelet Neuronal Interact 2005;5:262-272. [karger.com]
Beta carotene treatment and erythrocytic protoporphyrin levels. Arch Dermatol. 1979;115:818. [PubMed] [Google Scholar] 339. Mathews-Roth MM. Erythropoietic protoporphyria: treatment with antioxidants and potential cure with gene therapy. [ncbi.nlm.nih.gov]
Further, the various diseases of bone that are peculiar to children are highlighted and discussed in the light of our current knowledge with regard to causation, clinical signs and treatment. [books.google.de]
Better correlates with prognosis and treatment. Prior to HAART tx, 2-12% of AIDS patients would get primary CNS lymphoma. Overwhelming majority were B-cell lymphomas associated with EBV. Perivascular pattern of growth. [quizlet.com]
Prognosis
Grade I - IV based on prognosis. Can't use staging because lymph node mets and extraneural mets are extremely rare and don't correlate with prognosis. Primary vs secondary glioblastoma Different origins with different molecular mutations. [quizlet.com]
Prognosis of acute urticaria in children. Acta Dermatol Venereol. 2005;85:74–75. [PubMed] [Google Scholar] 111. Sackesen C, Sekerel BE, Orhan F. The etiology of different forms of urticaria in childhood. Pediatr Dermatol. 2004;21:102–108. [ncbi.nlm.nih.gov]
Etiology
Kawasaki disease: what is the epidemiology telling us about the etiology? Int J Infect Dis. 2005;9:185–194. [PMC free article] [PubMed] [Google Scholar] 238. Hirao J, Nagayoshi I. [ncbi.nlm.nih.gov]
Etiology = probably autoimmune after a viral infection. Tx: Supportive care, IVIg Hereditary motor and sensory neuropathies Rare today. Tendency to demyelinate and remyelinate --> more schwann cells wrapped around. [quizlet.com]
Epidemiology
The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]
Hedstrom EM, Svensson O, Bergstrom U, Michno P: Epidemiology of fractures in children and adolescents. Acta Orthop 2010;81:148-153. [karger.com]
Epidemiology of CNS tumors in kids CNS tumors are the most common neoplasm in kids 0-19yo. [quizlet.com]
Kawasaki disease: what is the epidemiology telling us about the etiology? Int J Infect Dis. 2005;9:185–194. [PMC free article] [PubMed] [Google Scholar] 238. Hirao J, Nagayoshi I. [ncbi.nlm.nih.gov]
Prevention
Munns CF, Cowell CT: Prevention and treatment of osteoporosis in chronically ill children. J Musculoskelet Neuronal Interact 2005;5:262-272. [karger.com]
Also mutations in the carboxy terminal propeptide region, where the chains associate, prevent incorporation of the abnormal chain and can lead to varying OI phenotypes ( 49 ). [radiologykey.com]
Prevention with folate supplements. Type I = cerebellar tonsils herniate through foramen magnum. Type II = tonsils and vermis. Associated with myelomeningocele. Type III = occipital encephalocele. These can obstruct CSF flow --> hydrocephalus. [quizlet.com]
Successful preventive treatment of congenital heart block during pregnancy in a woman with systemic lupus erythematosus and anti-Sjögren's syndrome A/Ro antibody. J Microbiol Immunol Infect. 2005;38:365–369. [PubMed] [Google Scholar] 78. [ncbi.nlm.nih.gov]