Radial and ulnar longitudinal deficiencies are the 2 most common types of congenital longitudinal deficiencies of the arm, with radial deficiency being 3 to 4 times more common. They are a spectrum of abnormalities, ranging from mild deficiency of the digits to complete loss of one-half the forearm, wrist, and fingers. Radial longitudinal deficiency is associated with a number of medical syndromes that require a comprehensive medical evaluation, while ulnar longitudinal deficiency (ULD) is associated with other musculoskeletal anomalies. Both conditions have a high incidence of ipsilateral thumb abnormalities. Wrist and forearm procedures, such as soft tissue distraction and centralization, are more often required in radial longitudinal deficiencies than in ULD. Elbow involvement can occur in both conditions but is more frequent and often more severe in ULD.
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http://dx.doi.org/10.1016/j.jhsa.2009.09.002 | DOI Listing |
Dev Med Child Neurol
December 2024
Department of Neurology and Neurological Sciences, Stanford University, CA, USA.
Aim: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period.
Method: We analyzed longitudinal neurodevelopmental outcomes from a prospective natural history study of DEE25, using standardized assessments of Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.
Results: There was significant global impairment across the cohort, with variable quality of life and limited genotype-phenotype correlation.
Pediatr Neurol
November 2024
The Kids Research Institute Australia, The University of Western Australia, Northern Entrance, Western Australia, Australia. Electronic address:
Background: Information on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.
Methods: Outcome variables were lifetime count of family-reported hospitalizations and average length of stay both for seizure- (management and/or investigative) and non-seizure-related causes.
PLOS Glob Public Health
December 2024
Department of Global Health, Rollins School of Public Health, Emory University, Atlanta, Georgia, United States of America.
Accounting for inflammation is necessary to assess iron deficiency using ferritin. A limitation of existing inflammation-adjustment methods is reliance on cross-sectional data to evaluate method performance. The study objective was to evaluate three inflammation-adjustment methods using longitudinal data from two controlled trials where apparently healthy adults (n = 52) were exposed to norovirus.
View Article and Find Full Text PDFPLoS One
December 2024
Institute of Medical Psychology, Justus-Liebig-University Giessen, Giessen, Germany.
Effective toothbrushing is important for maintaining good oral health. Nonetheless, epidemiological data suggest that individuals often encounter challenges in achieving oral cleanliness when brushing their teeth. Various cross-sectional studies have observed brushing behavior of individuals and found some widespread behavioral deficits including neglect of inner surfaces and inconsistent brushing movements.
View Article and Find Full Text PDFR Soc Open Sci
December 2024
Department of Psychology, Durham University, South Road, Durham DH1 3LE, UK.
Early maternal loss can have lasting detrimental effects on primate social development. While many rehabilitation settings provide enriching environments to buffer against such effects in orphans, previous research indicates that young bonobo () orphans exhibit striking deficiencies in socio-emotional competence compared to their mother-reared peers. However, such studies are generally cross-sectional, without accounting for changes across the lifespan.
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