Tactile sensitivity in the rat: a correlation between receptor structure and function.

Single cutaneous fibers were recorded in the median nerve of the deeply anesthetized rat and the receptor morphology in the forelimb glabrous skin was analyzed to establish a probable correlation between receptor anatomy and physiology. Receptor complexes in the glabrous skin of the rat forelimb were stained immunologically with antibodies NF-200 and PGP-9.5, confirming the presence of Meissner corpuscles and Merkel complexes within the dermal papilla similar to other mammals including primates. Both the Meissner corpuscles and Merkel cell complexes were sparse and located in the pyramidal-shaped palmer pads and the apex of the digit extremities. They were almost totally absent elsewhere in the glabrous skin. No Ruffini receptors or Pacinian corpuscles were found in our samples. A total of 92 cutaneous fibers were retained long enough for analysis. Thirty-five (38%) were characterized as rapidly adapting fibers (RA) and 57 (62%) were slowly adapting afferents (SA). Despite the very limited number of receptors at the tip of the digit, RA receptors outnumbered SA fibers 3.2/1.0. In contrast, SA fibers on the thenar pad outnumbered RA receptors by a ratio of 3-1. Despite the very limited number of low threshold mechanoreceptors in the glabrous skin of the rat forelimb, the prevalence of SA afferents in the palm and more frequent occurrence of RA afferents in the digit extremity suggest differences in functionality both for locomotion and object manipulation.

Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.

The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo-vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel-Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of rostro-caudal polarity and somite patterning during development. To date, only four cases have been reported. The current report aims at further delineating the posterior malformation in three new patients. Three patients from two unrelated families underwent clinical and radiological examination through X-ray, 3D computed tomography and brain magnetic resonance imaging. After informed consent was obtained, family-based whole exome sequencing (WES) was performed. Complex vertebral segmentation defects in the cervico-thoracic spine were observed in all patients. WES led to the identification of the homozygous splicing variant c.240-4T>G in all subjects. This variant is predicted to result in aberrant splicing of Exon 4. The current report highlights a subtype of cervical spine malformation with major atlo-axoidal malformation compromising spinal cord integrity. This distinctive mutation-specific pattern of malformation differs from Klippel-Feil syndrome and broadens the current classification, defining a sub-type of RIPPLY2-related skeletal disorder. Of note, the phenotype of one patient overlaps with oculo-auriculo-vertebral spectrum disorder.

Correlation of fingertip shear force direction with somatosensory cortical activity in monkey.

To examine the activity of somatosensory cortex (S1) neurons to self-generated shear forces on the index and thumb, two monkeys were trained to grasp a stationary metal tab with a key grip and exert forces without the fingers slipping in one of four orthogonal directions for 1 s. A majority (∼85%) of slowly adapting and rapidly adapting (RA) S1 neurons had activity modulated with shear force direction. The cells were recorded mainly in areas 1 and 2 of the S1, although some area 3b neurons also responded to shear direction or magnitude. The preferred shear vectors were distributed in every direction, with tuning arcs varying from 50° to 170°. Some RA neurons sensitive to dynamic shear force direction also responded to static shear force but within a narrower range, suggesting that the direction of the shear force may influence the adaptation rate. Other neurons were modulated with shear forces in diametrically opposite directions. The directional sensitivity of S1 cortical neurons is consistent with recordings from cutaneous afferents showing that shear direction, even without slip, is a powerful stimulus to S1 neurons.

Trampoline injuries in children: A prospective study.

BACKGROUND: Trampolining is popular and widely practiced among children. A literature review has shown a rise in the incidence of trampoline injuries with a concomitant increase in paediatric emergency department visits. The primary objective of this study was to describe the severity of trampoline injuries in children. The secondary objectives were to assess the epidemiology of the study population and injuries and to describe the treatments. HYPOTHESIS: We hypothesized that over 10% of trampoline injuries were severe. MATERIAL AND METHODS: We prospectively evaluated consecutive patients seen for surgical conditions at our paediatric emergency department over a 10-month period. Among them, 103 (1.2% of visits) aged 4 months to 16 years (mean, 8 years) had trampoline injuries. We classified trampoline injuries as severe if they required general anaesthesia. RESULTS: Severe injuries accounted for 16.5% of all trampoline injuries. The upper limb was predominantly affected (70.6% of cases). Overall, 66.7% of fractures were at the upper limb and 76% of contusions at the lower limb. The predominant fracture sites were the supra-condylar humerus (15.3%) and distal radius (15.3%). Among patients with non-severe injuries, four-fifths left the emergency department with a temporary immobilisation system. DISCUSSION: The proportion of severe injuries was slightly higher in our study than in earlier reports. Trampoline injuries remain uncommon but can be severe. Thus, in our study over one-sixth of patients required surgery under general anaesthesia. LEVEL OF EVIDENCE: IV, prospective descriptive epidemiological study.

Complications in pediatric spine surgery using the vertical expandable prosthetic titanium rib: the French experience.

STUDY DESIGN: Multicenter retrospective study of 54 children. OBJECTIVE: To describe the complication rate of the French vertical expandable prosthetic titanium rib (VEPTR) series involving patients treated between August 2005 and January 2012. SUMMARY OF BACKGROUND DATA: Congenital chest wall and spine deformities in children are complex entities. Most of the affected patients have severe scoliosis often associated with a thoracic deformity. Orthopedic treatment is generally ineffective, and surgical treatment is very challenging. These patients are good candidates for VEPTR expansion thoracoplasty. The aim of this study was to evaluate the potential complications of VEPTR surgery. METHODS: Of the 58 case files, 54 were available for analysis. The series involved 33 girls and 21 boys with a mean age of 7 years (range, 20 mo-14 yr and 2 mo) at primary VEPTR surgery. During the follow-up period, several complications occurred. RESULTS: Mean follow-up was 22.5 months (range, 6-64 mo). In total, 184 procedures were performed, including 56 VEPTR implantations, 98 expansions, and 30 nonscheduled procedures for different types of complications: mechanical complications (i.e., fracture, device migration), device-related and infectious complications, neurological disorders, spine statics disturbances. Altogether, there were 74 complications in 54 patients: a complication rate of 137% per patient and 40% per surgery. Comparison of the complications in this series with those reported in the literature led the authors to suggest solutions that should help decrease their incidence. CONCLUSION: The complication rate is consistent with that reported in the literature. Correct determination of the levels to be instrumented, preoperative improvement of nutritional status, and better evaluation of the preoperative and postoperative respiratory function are important factors in minimizing the potential complications of a technique that is used in weak patients with complex deformities.

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis.

BACKGROUND: Juvenile amyotrophic lateral sclerosis (JALS) refers to a form of amyotrophic lateral sclerosis (ALS) in which a progressive upper and lower motor neuron degeneration begins before 25 years of age. It is generally associated with slow disease progression. During the past decade, a number of genes have been reported to cause JALS. Mutations in the ALSIN gene cause JALS type 2 (ALS2) as well as juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis. Mutations in the SETX gene can also sometimes lead to JALS. Conversely, mutations in SOD1, TARDBP, and FUS typically cause pure ALS, with adult onset between 46 and 56 years of age and usually rapid progression over 3 to 5 years. Recently, a few mutations in FUS have been associated with juvenile-onset of ALS characterized by a very rapid progression. OBJECTIVE: To investigate the genetics of a patient with juvenile-onset ALS. DESIGN AND PATIENT: We sequenced all the coding exons of SOD1, TARDBP, and FUS in a 19-year-old patient experiencing rapid degeneration of upper and lower motor neurons. RESULTS: A novel 1-base pair deletion was detected in exon 14 of the FUS gene, leading to a frameshift and the integration of 33 new amino acids. The variant p.R495QfsX527 is located in the highly conserved, extreme C terminal of the FUS protein, where most of the mutations in FUS have been identified. The variant was also identified in the unaffected 47-year-old mother of the patient, who remains asymptomatic. CONCLUSIONS: Our finding, along with other research, further confirms that FUS mutations can lead to an early-onset malignant form of ALS. In addition, our data lend additional support to the notion that disruption of the conserved C terminal of FUS is critical for developing ALS.

Role of friction and tangential force variation in the subjective scaling of tactile roughness.

The present study examined the contribution of normal (Fz) and tangential (Fx) forces, and their ratio, kinetic friction (Fx/Fz), to the subjective magnitude estimations of roughness. The results suggested that the rate of variation in tangential stroking force is a significant determinant of roughness perception. In the first experiment, six volunteer subjects scaled the roughness of eight surfaces explored with a single, active scan of the middle finger. The surfaces were 7.5x2.4-cm polymer strips embossed with truncated cones 1.8 mm high with a spatial period of 2.0 mm in the transverse direction and 1.5-8.5 mm in the longitudinal, scanning direction. The surfaces were mounted on a six-axis force and torque sensor that measured the perpendicular, contact force (normal to the skin surface) and the tangential force along the axis of stroking. The results confirmed the findings of an earlier study that magnitude estimates of perceived roughness increase approximately linearly up to a longitudinal spatial period of 8.5 mm. Across subjects, no consistent correlations were found between perceived roughness and either the mean normal or tangential force alone. Although significant positive correlations were found between roughness and mean kinetic friction for all subjects, they were not as consistently robust as one might have expected. Furthermore, instantaneous kinetic friction varied widely over the course of a single stroke because of within trial oscillations in the tangential force. The amplitude of these oscillations increased with the longitudinal spatial period and their frequency was determined by a combination of the spatial period and the stroking velocity. These oscillations were even more conspicuous in the first derivative or rate of change of the tangential force (dFx/d t), which was quantified as the root mean square (RMS) of the tangential force rate. The mean normalized RMS proved to be strongly correlated with subjective roughness, averaging 0.88 for all subjects. In order to dissociate the fluctuations in tangential force from both the surface structure and the mean kinetic friction, a second experiment was performed on six additional subjects who estimated the roughness of identical lubricated and unlubricated (dry) surfaces. Lubrication with liquid soap reduced the mean kinetic friction by approximately 40%, the RMS of the tangential force rate by slightly more than 21% and the subjective estimates of roughness by 16.4%. Taken together, the results suggest that in tactile exploration, the RMS of the tangential force rate may be an important determinant of subjective roughness.

Traumatic dislocation of the hip with separation of the capital epiphysis: 5 adolescent patients with 3-9 years of follow-up.

We reviewed 5 cases of type I epiphyseal fracture with dislocation of the femoral head from the acetabulum in adolescent patients. All children had an open reduction and screw fixation. In all cases, the femoral head developed avascular necrosis. The clinical result after a mean of 3-9 years' follow-up was good according to the Merle d'Aubigné-Postel scale. Despite necrosis, 2 heads developed spherically after treatment: one which had a primary physeal resection and fixation, the other after an autogenous bone graft in the screw track following removal of the screw.