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Neurologic examination of the infant and child
Published in Michael Y. Wang, Andrea L. Strayer, Odette A. Harris, Cathy M. Rosenberg, Praveen V. Mummaneni, Handbook of Neurosurgery, Neurology, and Spinal Medicine for Nurses and Advanced Practice Health Professionals, 2017
Karthik Madhavan, George M. Ghobrial, Stephen S. Burks, Michael Y. Wang
At the time of examination, the white coat is best avoided, and the child is examined in his or her most comfortable position. Complicated and uncomfortable examinations like fundoscopy and testing of the gag reflex are best avoided until the end of the exam. Stranger anxiety is common and a sign of normal development. Professionals are advised to develop a rapport with the child by offering a toy or shiny object to grab attention. Physical examination should include evaluation of the skin, nails, and hair, as they directly represent the ectodermal origin embryologically. Head-to-toe examination of the child starts with the head circumference. Neurocutaneous lesions are commonly found in certain syndromes, for example, ash leaf spots (tuberous sclerosis), café au lait spots (neurofibromatosis), angiomas (Sturge-Weber syndrome), axillary freckling (found in neurofibromatosis), adenoma sebaceum (?), or shagreen patches (?). A whorl of hair is seen if there is any abnormality underneath. A single palmar crease is commonly encountered in Down syndrome. A spinal examination should include evaluation of kyphoscoliosis, sacral dimples, tufts of hair, or small openings in the spine.
“The more I do, the more I can do”: perspectives on how performing daily activities and occupations influences recovery after surgical repair of a distal radius fracture
Published in Disability and Rehabilitation, 2022
Julie M. Collis, Elizabeth C. Mayland, Valerie Wright-St Clair, Nada Signal
Data were generated via an activity and exercise log and a semi-structured interview. Participants were visited on two occasions (see Figure 1). The clinical features of pain severity and kinesiophobia were measured by the patient rated wrist and hand evaluation (PRWHE) [21] and the Tampa scale of kinesiophobia-11 (TSK-11) [21,22], respectively. The TSK-11 has a score range between 11 and 44 with a score of ≥35 delineated as high kinesiophobia [23]. Wrist stiffness was scored as: >50%, 20–50%, or <20% of the contralateral side [24]. Finger stiffness was a fingertip to distal palmar crease measurement > 1cm [2].
Mosaic Trisomy 12: Prenatal Diagnosis at Amniocentesis and Molecular Genetic Analysis on Fetal Tissues
Published in Fetal and Pediatric Pathology, 2022
Paola Bonasoni, Gabriele Tonni, Giuseppina Comitini, Veronica Barbieri, Monia Rinaldini, Maria Marinelli
In conclusion, we report a new case of mosaic trisomy 12 detected prenatally with extensive genetic analysis on fetal tissues, including brain. We have expanded the current phenotype adding new morphological findings, further demonstrating the high variability of this chromosomal mosaicism. Our current case disclosed hand anomalies such as broad thumbs and incomplete palmar crease; fading plantar creases; partial anomalous pulmonary venous return with right pulmonary veins draining directly into the supracardiac vena cava; intestinal malrotation of incomplete type, and bicornuate uterus.
The clinical and laboratory investigation of dysbetalipoproteinemia
Published in Critical Reviews in Clinical Laboratory Sciences, 2020
Christopher S. Boot, Ahai Luvai, Robert D. G. Neely
Striate palmar xanthomata, which are caused by the deposition of yellow-orange colored carotene-incorporated remnant lipoproteins, are widely considered a pathognomonic sign of FDBL [9]. It should be noted that white palmar crease infiltration accompanying severe lipoprotein X accumulation has been reported [10]. In a well described South African FDBL cohort, palmar crease xanthomata were observed in only 20% of cases while they were present in 64% of a North American cohort [9,11].