Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: Result of a mosaic PIK3CA mutation in the para-axial mesoderm state.
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ABSTRACT:
SUBMITTER: Ebner BA
PROVIDER: S-EPMC9245934 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Background and purposeBrachial plexus birth injury is caused by traction on the neck during delivery and results in flaccid palsy of an upper extremity commonly involving C5-C6 nerve roots. MR imaging and MR myelography help to assess the anatomic location, extent, and severity of brachial plexus injuries which influence the long-term prognosis along with the surgical decision making. Recently, sonography has been increasingly used as the imaging modality of choice for brachial plexus injuries. The aim of this study was to assess the degree of correlation among brachial plexus sonography, MR imaging, and surgical findings in children with brachial plexus birth injury.Materials and methodsThis prospective study included 55 consecutive patients (girls/boys = 32:23; mean age, 2.1 ± 0.8 months) with brachial plexus birth injury between May 2014 and April 2017. The patients were classified according to the Narakas classification and were followed up at 4- to 6-week intervals for recovery by the Modified Mallet system and sonography without specific preparation for evaluation. All patients had MR imaging under general anesthesia. Nerve root avulsion-retraction, pseudomeningocele, and periscalene soft tissue were accepted brachial plexus injury findings on imaging. Interobserver agreement for MR imaging and the agreement between imaging and surgical findings were estimated using the κ statistic. The diagnostic accuracy of sonography and MR imaging was calculated on the basis of the standard reference, which was the surgical findings.ResultsForty-three patients had pre- and postganglionic injury, 12 had only postganglionic injury findings, and 47% of patients underwent an operation. On sonography, no patients had preganglionic injury, but all patients had postganglionic injury findings. For postganglionic injury, the concordance rates between imaging and the surgical findings ranged from 84% to 100%, and the diagnostic accuracy of sonography and MR imaging was 89% and 100%, respectively. For preganglionic injury, the diagnostic accuracy of MR imaging was 92%. Interobserver agreement and the agreement between imaging and the surgical findings were almost perfect for postganglionic injury (κ = 0.81-1, P < .001).ConclusionsHigh-resolution sonography can identify and locate the postganglionic injury associated with the upper and middle trunks. The ability of sonography to evaluate pre- and the postganglionic injury associated with the lower trunk was quite limited. Sonography can be used as a complement to MR imaging; thus, the duration of the MR imaging examination and the need for sedation can be reduced by sonography.
| S-EPMC7655297 | biostudies-literature
Project description:Adult traumatic brachial plexus injuries can have devastating effects on upper extremity function. Although neurolysis, nerve repair, and nerve grafting have been used to treat injuries to the plexus, nerve transfer makes use of an undamaged nerve to supply motor input over a relatively short distance to reinnervate a denervated muscle. A review of several recent innovations in nerve transfer surgery for brachial plexus injuries is illustrated with surgical cases performed at this institution.
| S-EPMC2504085 | biostudies-other
Project description:Thoracic outlet syndrome is a debilitating condition, impairing the function of the upper limb, and can be considered an entrapment of neurovascular structures dedicated to the upper limb. Its open treatment uses a large approach, and to date, only the structures under the clavicle have been endoscopically approached. The purpose of this Technical Note is to describe an endoscopic brachial plexus decompression at all possible entrapment areas between the neck and the arm.
| S-EPMC7587459 | biostudies-literature
Project description:Background:Hemidiaphragmatic paralysis, a frequent complication of the brachial plexus block performed above the clavicle, is rarely associated with an infraclavicular approach. The costoclavicular brachial plexus block is emerging as a promising infraclavicular approach. However, it may increase the risk of hemidiaphragmatic paralysis because the proximity to the phrenic nerve is greater than in the classical infraclavicular approach. Methods:This retrospective analysis compared the incidence of hemidiaphragmatic paralysis in patients undergoing costoclavicular and supraclavicular brachial plexus blocks. Of 315 patients who underwent brachial plexus block performed by a single anesthesiologist, 118 underwent costoclavicular, and 197 underwent supraclavicular brachial plexus block. Propensity score matching selected 118 pairs of patients. The primary outcome was the incidence of hemidiaphragmatic paralysis, defined as a postoperative elevation of the hemidiaphragm > 20 mm. Factors affecting the incidence of hemidiaphragmatic paralysis were also evaluated. Results:Hemidiaphragmatic paralysis was observed in three patients (2.5%) who underwent costoclavicular and 47 (39.8%) who underwent supraclavicular brachial plexus blocks (P < 0.001; odds ratio, 0.04; 95% confidence interval, 0.01-0.13). Both the brachial plexus block approach and the injected volume of local anesthetic were significantly associated with hemidiaphragmatic paralysis. Conclusions:The incidence of hemidiaphragmatic paralysis is significantly lower with costoclavicular than with supraclavicular brachial plexus block.
| S-EPMC7136300 | biostudies-literature
Project description:Diffusion Tensor MRI (DT-MRI) is a promising tool for the evaluation of brachial plexus pathology. Therefore, we introduce and evaluate a fast DT-MRI protocol (8min33s scanning with 5-10 min postprocessing time) for the brachial plexus.Thirty healthy volunteers within three age-groups (18-35, 36-55, and > 56) received DT-MRI of the brachial-plexus twice. Means of fractional-anisotropy (FA), mean-diffusivity (MD), axial-diffusivity (AD), and radial-diffusivity (RD) for the individual roots and trunks were evaluated. A stepwise forward approach was applied to test for correlations with age, sex, body-mass-index (BMI), bodysurface, height, and bodyweight. Within-subject, intra-rater, and inter-rater repeatability were assessed using Bland-Altman analysis, coefficient of variation (CV), intraclass-correlation (ICC), and minimal detectable difference (MDD).No differences between sides and root levels were found. MD, AD, and RD correlated (P < 0.05) with bodyweight. Within-subject quantification proved repeatable with CVs for FA, MD, AD, and RD of 16%, 12%, 11%, and 14%, respectively.The DT-MRI protocol was fast and repeatable. Found correlations should be considered in future studies of brachial plexus pathology.
| S-EPMC5942843 | biostudies-literature
Project description:Cellular therapy is being actively pursued as a therapeutic modality in many of the neurological diseases. A variety of stem cells from diverse sources have been studied in detail and have been shown to exhibit angiogenetic and immunomodulatory properties in addition to other neuroprotective effects. Published clinical data have shown bone marrow mononuclear cell (BMMNC) injection in neurological disorders is safe and possesses regenerative potential. We illustrate a case of 27-year-old male with traumatic brachial plexus injury, administered with autologous BMMNCs intrathecally and intramuscularly, followed by multidisciplinary rehabilitation. At the follow-up assessment of 3 and 7 months after first cell transplantation, improvements were recorded in muscle strength and movements. Electromyography (EMG) performed after the intervention showed a response in biceps and deltoid muscles suggesting the process of reinnervation at the site of injury. In view of the improvements observed after the treatment, the patient underwent second cell transplantation 8 months after the first transplantation. Muscle wasting had completely stopped with an increase in the muscle girth. No adverse effects were noted. Improvements were maintained for 4 years. A comprehensive randomized study for this type of injury is needed to establish the therapeutic benefits of cellular therapy.
| S-EPMC5887704 | biostudies-literature
Project description:Shoulder fusion for sequelae of obstetrical brachial plexus injury is reported as a valuable surgical solution with very good results and functional range of motion. It is traditionally performed in open fashion. Few reports describe the technique of arthroscopic shoulder fusion, but nearly all of them were done in cases with traumatic brachial plexus injury that have normal joint anatomy. This report describes and discusses the arthroscopic shoulder fusion technique in cases with disorganized glenohumeral joint secondary to obstetric brachial plexus injury. An illustrative case example is presented.
| S-EPMC7372597 | biostudies-literature
Project description:Unilateral brachial plexus injury (BPI) impairs sensory and motor functions of the upper limb. This study aimed to map in detail brachial plexus sensory impairment both in the injured and the uninjured upper limb. Touch sensation was measured through Semmes-Weinstein monofilaments at the autonomous regions of the brachial plexus nerves, hereafter called points of exclusive innervation (PEIs). Seventeen BPI patients (31.35 years±6.9 SD) and 14 age-matched healthy controls (27.57 years±5.8 SD) were tested bilaterally at six selected PEIs (axillary, musculocutaneous, median, radial, ulnar, and medial antebrachial cutaneous [MABC]). As expected, the comparison between the control group and the brachial plexus patients' injured limb showed a robust difference for all PEIs (p ≤ 0.001). Moreover, the comparison between the control group and the brachial plexus uninjured limb revealed a difference for the median (p = 0.0074), radial (p = 0.0185), ulnar (p = 0.0404), and MABC (p = 0.0328) PEIs. After splitting the sample into two groups with respect to the dominance of the injured limb, higher threshold values were found for the uninjured side when it occurred in the right dominant limb compared to the control group at the median (p = 0.0456), radial (p = 0.0096), and MABC (p = 0.0078) PEIs. This effect was absent for the left, non-dominant arm. To assess the effect of the severity of sensory deficits observed in the injured limb upon the alterations of the uninjured limb, a K-means clustering algorithm (k = 2) was applied resulting in two groups with less or more severe sensory impairment. The less severely affected patients presented higher thresholds at the median (p = 0.0189), radial (p = 0.0081), ulnar (p = 0.0253), and MABC (p = 0.0187) PEIs in the uninjured limb in comparison with the control group, whereas higher thresholds at the uninjured limb were found only for the median PEI (p = 0.0457) in the more severely affected group. In conclusion, an expressive reduction in touch threshold was found for the injured limb allowing a precise mapping of the impairment caused by the BPI. Crucially, BPI also led to reduced tactile threshold in specific PEIs in the uninjured upper limb. These new findings suggest a superordinate model of representational plasticity occurring bilaterally in the brain after a unilateral peripheral injury.
| S-EPMC6700256 | biostudies-literature
Project description:Facial infiltrating lipomatosis (FIL) is a congenital disorder. The pathogenesis of FIL is associated with PIK3CA mutations, but the underlying mechanisms remain undetermined. We found that the adipose tissue in FIL demonstrated adipocytes hypertrophy and increased lipid accumulation. All adipose-derived mesenchymal stem cells from FIL (FIL-ADSCs) harbored PIK3CA mutations. Moreover, FIL-ADSCs exhibited a greater capacity for adipogenesis. Knockdown of PIK3CA resulted in a reduction in the adipogenic potential of FIL-ADSCs. Furthermore, WX390, a dual-target PI3K/mTOR inhibitor, was found to impede PIK3CA-mediated adipogenesis both in vivo and in vitro. RNA sequencing (RNA-seq) revealed that the expression of transient receptor potential vanilloid subtype 1 (TRPV1) was upregulated after PI3K pathway inhibition, and overexpression or activation of TRPV1 both inhibited adipogenesis. Our study showed that PIK3CA mutations promoted adipogenesis in FIL-ADSCs and this effect was achieved by suppressing TPRV1. Pathogenesis experiments suggested that WX390 may serve as an agent for the treatment of FIL.
| S-EPMC11298645 | biostudies-literature
Project description:Diffusion tensor magnetic resonance imaging (DTI) can be used to reconstruct the brachial plexus in 3D via tracts connecting contiguous diffusion tensors with similar primary eigenvector orientations. When creating DTI tractograms, the turning angle of connecting lines (step angle) must be prescribed by the user; however, the literature is lacking detailed geometry of brachial plexus to inform such decisions. Therefore, the spinal cord and brachial plexus of 10 embalmed adult cadavers were exposed bilaterally by posterior dissection. Photographs were taken under standardised conditions and spatially calibrated in MATLAB. The roots of the brachial plexus were traced from the dorsal root entry zone for 5 cm laterally using a 2.5-mm2 Cartesian grid overlay. The trace was composed of points connected by lines, and the turning angle between line segments (the step angle) was resolved. Our data show that the geometry of the roots increased in tortuosity from C5 to T1, with no significant differences between sides. The 1st thoracic root had the most tortuous course, turning through a maximum angle of 56° per 2.5 mm (99% CI 44° to 70°). Significantly higher step angles and greater variability were observed in the medial 2 cm of the roots of the brachial plexus, where the dorsal and ventral rootlets coalesce to form the spinal root. Throughout the brachial plexus, the majority of step angles (>50%) were smaller than 20° and <1% of step angles exceeded 70°. The geometry of the brachial plexus increases in tortuosity from C5 to T1. To reconstruct 99% of tracts representing the roots of the brachial plexus by DTI tractography, users can either customise the step angle per root based on our findings or select a universal threshold of 70°.
| S-EPMC7704236 | biostudies-literature