ADVERTISEMENT
ADVERTISEMENT
Back to Topics Listing
Nov 26, 2014
Benfer KA, Jordan R, Bandaranayake S, Finn C, Ware RS, Boyd RN
OBJECTIVES: To compare the patterns of motor type and gross motor functional severity in preschool-aged children with cerebral palsy (CP) in Bangladesh and Australia. METHODS: We used comparison of 2 prospectiv...
Nov 25, 2014
Ruhoy IS, Saneto RP
Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentlessly progressive and devastating to both the patient and the patient's f...
Nov 25, 2014
Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ
Temple-Baraitser syndrome (TBS) is a multisystem developmental disorder characterized by intellectual disability, epilepsy, and hypoplasia or aplasia of the nails of the thumb and great toe. Here we report damaging de ...
Nov 25, 2014
Tews W, Weise S, Syrbe S, Hirsch W, Viehweger A, Merkenschlager A, Bertsche A, Kiess W, Bernhard MK
Background: After a first afebrile seizure, EEG in addition to cMRI is recommended for pediatric patients. Once indications requiring immediate treatment are excluded, it is of interest to determine if the results prov...
Nov 25, 2014
Alfadhel M, Saleh N, Alenazi H, Baffoe-Bonnie H
BACKGROUND: Acute intermittent porphyria (AIP) is an autosomal dominant neurovisceral inherited disorder due to a defect in the heme biosynthesis pathway. Misdiagnosis of the porphyrias is not uncommon. CASE RE...
Nov 25, 2014
Liu XM, Li R, Chen SZ, Sang Y, Chen J, Fan CH
The objective of this study is to explore the incidence of inherited metabolic disorders (IMD) in infants with infantile spasms (IS), with an attempt to improve the early diagnosis and etiological and symptomatic treat...
Nov 25, 2014
Tabarki B, Al Mutairi F, Al Hashem A
WWOX was cloned as a tumor suppressor gene mapping to chromosomal fragile site FRA16D. Loss of WWOX is closely related to tumorigenesis, cancer progression, and therapy resistance. Recent studies demonstrate the growin...
Nov 22, 2014
Doll E, Wilkes J, Cook LJ, Korgenski EK, Faix RG, Yoder BA, Srivastava R, Sherwin CM, Spigarelli MG, Clark EA, Bonkowsky JL
Objective: Chronic neurological deficits are a significant complication of preterm birth. Magnesium supplementation has been suggested to have neuroprotective function in the developing brain. Our objective was to dete...
Nov 22, 2014
Samia P, Donald KA, Schlegel B, Wilmshurst JM
Tuberous sclerosis complex is a genetic disorder with multisystem involvement that poses significant challenges to the affected child and family. Caregiver knowledge in the South African population has not previously b...
Nov 20, 2014
Buerki SE, Connolly MB

Pages