scholarly journals Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis

2021 ◽  
Author(s):  
Alessandro Salvalaggio ◽  
Daniele Coraci ◽  
Laura Obici ◽  
Mario Cacciavillani ◽  
Marco Luigetti ◽  
...  
Keyword(s):  
Brachial Plexus ◽  
Nerve Ultrasound ◽  
Transthyretin Amyloidosis ◽  
Cross Sectional ◽  
Axonal Polyneuropathy ◽  
Ultrasound Evaluation ◽  
Disease Occurrence ◽  
Longitudinal Biomarker ◽  
Hereditary Transthyretin Amyloidosis

AbstractAxonal polyneuropathy is the main feature of hereditary transthyretin amyloidosis (ATTRv). Nerve morphological abnormalities have been reported, but longitudinal changes have never been assessed. We performed a prospective widespread nerve ultrasound evaluation and nerve cross-sectional area (CSA) was compared with baseline data in both ATTRv patients and pre-symptomatic carriers. Thirty-eight subjects were evaluated (mean follow-up 17.1 months), among them 21 had polyneuropathy while 17 were pre-symptomatic carriers. CSA significantly increased at brachial plexus in both groups (p = 0.008 and p = 0.012) pointing to progressive brachial plexus enlargement as a longitudinal biomarker of both disease progression and disease occurrence in pre-symptomatic carriers.

scholarly journals First Study of the Prevalence and Characterization of Brachial Plexus Injuries in Guatemala

2021 ◽  
Vol 16 (01) ◽  
pp. e46-e50
Author(s):  
Carmen Joanna González Lemus ◽  
Fernando Xavier Romero Prieto
Keyword(s):  
Brachial Plexus ◽  
Brachial Plexus Injury ◽  
Main Mode ◽  
Cross Sectional ◽  
Speed Up ◽  
Male Patients ◽  
Mode Of Transportation ◽  
Surgery Department

Abstract Objective This study aimed to estimate the prevalence of brachial plexus injuries and to characterize clinically and epidemiologically patients with brachial plexus injury. Materials and Methods In this cross-sectional descriptive study, 2,923 medical records of patients aged 1 to 64 years who presented at outpatient peripheral nerve unit of the Orthopedic Surgery Department of Hospital Roosevelt, Guatemala, from January 2017 to December 2017, were prospectively analyzed to identify the prevalence and factors associated with brachial plexus injuries. Results The prevalence rate of brachial plexus injuries in patients was 5.74%. This injury is more common in men (90.5%) aged 24 to 64 years. Brachial plexus injuries occurred secondary to motorcycle accident in 72% of the cases, with the majority affecting the dominant upper extremity. In addition, 64.28% of the patients took 1 to 6 months to seek consultation, whereas only 16.07% requested medical assistance <1 month from the onset of symptoms, and this result was associated with early diagnosis and adequate recovery during follow-up. Furthermore, 66.67% presented upper brachial plexus injury with no associated fractures or vascular injury, manifesting distress while performing daily activities that required hand, arm, and elbow movements. Conclusion The risk of suffering BPIs in Guatemala increases in economically active male patients that use motorcycles as main mode of transportation. Patients should consult immediately after injury onset to optimize management results. For this reason, hospitals must develop specialized clinical guidelines to speed up the identification and treatment of BPI injuries.

scholarly journals Quantitative assessment of brachial plexus MRI for the diagnosis of chronic inflammatory neuropathies

2020 ◽  
Author(s):  
Marieke H. J. van Rosmalen ◽  
H. Stephan Goedee ◽  
Anouk van der Gijp ◽  
Theo D. Witkamp ◽  
Ruben P. A. van Eijk ◽  
...  
Keyword(s):  
Brachial Plexus ◽  
Nerve Root ◽  
Interrater Reliability ◽  
Quantitative Assessment ◽  
Chronic Inflammatory Demyelinating Polyneuropathy ◽  
Diagnostic Value ◽  
Response To Treatment ◽  
Motor Neuropathy ◽  
Nerve Ultrasound ◽  
Cross Sectional

Abstract Objective This study aimed at developing a quantitative approach to assess abnormalities on MRI of the brachial plexus and the cervical roots in patients with chronic inflammatory demyelinating polyneuropathy (CIDP) and multifocal motor neuropathy (MMN) and to evaluate interrater reliability and its diagnostic value. Methods We performed a cross-sectional study in 50 patients with CIDP, 31 with MMN and 42 disease controls. We systematically measured cervical nerve root sizes on MRI bilaterally (C5, C6, C7) in the coronal [diameter (mm)] and sagittal planes [area (mm2)], next to the ganglion (G0) and 1 cm distal from the ganglion (G1). We determined their diagnostic value using a multivariate binary logistic model and ROC analysis. In addition, we evaluated intra- and interrater reliability. Results Nerve root size was larger in patients with CIDP and MMN compared to controls at all predetermined anatomical sites. We found that nerve root diameters in the coronal plane had optimal reliability (intrarater ICC 0.55–0.87; interrater ICC 0.65–0.90). AUC was 0.78 (95% CI 0.69–0.87) for measurements at G0 and 0.81 (95% CI 0.72–0.91) for measurements at G1. Importantly, our quantitative assessment of brachial plexus MRI identified an additional 10% of patients that showed response to treatment, but were missed by nerve conduction (NCS) and nerve ultrasound studies. Conclusion Our study showed that a quantitative assessment of brachial plexus MRI is reliable. MRI can serve as an important additional diagnostic tool to identify treatment-responsive patients, complementary to NCS and nerve ultrasound.

scholarly journals Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers

2020 ◽  
Author(s):  
Alessandro Salvalaggio ◽  
Daniele Coraci ◽  
Mario Cacciavillani ◽  
Laura Obici ◽  
Anna Mazzeo ◽  
...  
Keyword(s):  
Red Flags ◽  
Nerve Ultrasound ◽  
Transthyretin Amyloidosis ◽  
Hereditary Transthyretin Amyloidosis

Specific postoperative complications of vitrectomy in hereditary transthyretin amyloidosis

2021 ◽  
pp. 112067212110065
Author(s):  
Pathma Thiagasorupan ◽  
Emmanuel Barreau ◽  
Gaël Gendron ◽  
Eric Frau ◽  
Cécile Cauquil ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Postoperative Complications ◽  
Vision Loss ◽  
Late Complications ◽  
Amyloid Angiopathy ◽  
Transthyretin Amyloidosis ◽  
Single Center Study ◽  
Vitreous Opacities ◽  
Hereditary Transthyretin Amyloidosis

Introduction: Vitrectomy may improve visual acuity of hereditary transthyretin amyloidosis (ATTRv) patients presenting with vitreous opacities but is associated with severe complications. The objective of this study is to report visual outcomes, early and late complications of a series of ATTRv patients who underwent vitrectomy in the French ATTRv reference center. Methods: This retrospective, single-center study, included all ATTRv patients who underwent vitrectomy between 2002 and 2017. Data were collected on pre and postoperative best corrected visual acuity (BCVA) and early and late postoperative complications. Results: A total of 21 eyes from 15 patients were included. The mean postoperative follow-up was 40 ± 20 months (6–160 months). BCVA increased from 0.7 ± 0.4 LogMAR preoperatively to 0.3 ± 0.4 LogMAR ( p = 0.003) at last postoperative visit. During follow-up, all initially glaucomatous eyes worsened, with three eyes (37%) requiring filtering surgery and two eyes (25%) had further vision loss. Among non-glaucomatous patients, four eyes (31%) developed glaucoma with two requiring trabeculectomy and one eye (8%) had further vision loss. Three eyes (three patients) presented with complications of amyloid angiopathy. Three eyes (three patients) experienced recurrence of vitreous deposits requiring surgical revision. Conclusion: Due to the potential complications, vitrectomy in ATTRv requires specific perioperative management and life-long postoperative monitoring.

scholarly journals Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis

2021 ◽  
Vol 11 (1) ◽  
pp. 49
Author(s):  
Emily R. Soper ◽  
Sabrina A. Suckiel ◽  
Giovanna T. Braganza ◽  
Amy R. Kontorovich ◽  
Eimear E. Kenny ◽  
...  
Keyword(s):  
Heart Failure ◽  
New York ◽  
Screening Program ◽  
Population Based ◽  
Transthyretin Amyloidosis ◽  
Genomic Screening ◽  
Delays In Diagnosis ◽  
Record Review ◽  
Hereditary Transthyretin Amyloidosis

The TTR V142I variant associated with hereditary transthyretin amyloidosis (hATTR) is present in up to 4% of African American (AA) and 1% of Hispanic/Latinx (HL) individuals and increases risk for heart failure. Delayed and missed diagnoses could potentiate health disparities in these populations. We evaluated whether population-based genomic screening could effectively identify individuals at risk for hATTR and prompt initiation of risk management. We identified participants of the BioMe Biobank in New York City who received TTR V142I results through a pilot genomic screening program. We performed a retrospective medical record review to evaluate for the presence hATTR-related systemic features, uptake of recommended follow-up, and short-term outcomes. Thirty-two AA (N = 17) and HL (N = 15) individuals received a TTR V142I result (median age 57, 81% female). None had a previous diagnosis of hATTR. Eighteen (56%) had hATTR-related systemic features, including 4 (13%) with heart failure, 10 (31%) with carpal tunnel syndrome, and 10 (31%) with spinal stenosis. Eighteen (56%) pursued follow-up with a cardiologist within 8 months. One person received a diagnosis of hATTR. Thus, we found that the majority of V142I-positive individuals had hATTR-related systemic features at the time of result disclosure, including well-described red flags. Genomic screening can help identify hATTR risk and guide management early on, avoiding potential delays in diagnosis and treatment.

Pupillometry: An objective test to assess endocular hereditary transthyretin amyloidosis

2021 ◽  
pp. 112067212199729
Author(s):  
João Heitor Marques ◽  
Luísa Malheiro ◽  
Jorge Malheiro ◽  
Luís Oliveira ◽  
Maria João Menéres ◽  
...  
Keyword(s):  
Cranial Nerves ◽  
Pupillary Light Reflex ◽  
Neurological Dysfunction ◽  
Control Group ◽  
Transthyretin Amyloidosis ◽  
Cross Sectional ◽  
Light Reflex ◽  
Lighting Conditions ◽  
Pupillary Light ◽  
Hereditary Transthyretin Amyloidosis

Objective: To automatically study the pupillary light reflex in patients with hereditary transthyretin-associated amyloidosis (hATTR). Methods: Prospective cross-sectional observational study in patients with hATTR with unilateral scalloped iris. Pupillary light reflex of scalloped iris eyes (21 eyes) were compared with non-scalloped iris eyes (21 eyes, paired eyes of the same patients) and also with a control group of 20 healthy eyes, using static and dynamic pupillometry with the Metrovision® MonPack One. Results: No patient presented evident neurological involvment of the cranial nerves. No significant differences were found in the pupillary diameters under standardized lighting conditions (static pupillometry) among groups. In dynamic pupillometry, the amplitude of contraction, the velocity of contraction and the velocity of dilation were statistically significantly lower in eyes with scalloped iris, comparing both with the contralateral non-scalloped iris eyes ( p < 0.001 for all) and with eyes from healthy subjects ( p < 0.05 for all). Conclusion: A scalloped iris reflects a more advanced endocular hATTR and it is associated with an altered pupillary light reflex. Pupillometry may be a quick, simple, and portable test to objectively evaluate ocular amyloid deposition in hATTR eyes. Pupillary light reflex may not be reliable to evaluate neurological dysfunction in these patients.

scholarly journals Health-care use and information needs of children with neonatal brachial plexus palsy: A cross-sectional survey among 465 Dutch patients

2018 ◽  
Vol 24 (1) ◽  
pp. 46-63
Author(s):  
Menno van der Holst ◽  
Duco Steenbeek ◽  
Willem Pondaag ◽  
Rob GHH Nelissen ◽  
Thea PM Vliet Vlieland
Keyword(s):  
Health Care ◽  
Brachial Plexus ◽  
Information Needs ◽  
Health Care Use ◽  
Brachial Plexus Palsy ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Current Information ◽  
Neonatal Brachial Plexus Palsy

To investigate health-care use (HCU) and information needs of children aged 0–18 years with neonatal brachial plexus palsy (NBPP), a cross-sectional study was performed. Patients and/or parents seen in our NBPP clinic were invited to complete a survey comprising questions on HCU due to NBPP and current information needs. Outcomes were described for three age-groups (0–1/2–9/10–18 years), based on follow-up status (early/late/no-discharge). Four hundred sixty-five parents/patients participated (59 in the 0–1, 226 in the 2–9, and 180 in the 10–18-year group). Two hundred ninety-three patients had C5–C6 lesions, 193 were discharged from follow-up, 83 of whom categorized as ‘early discharged’ (<1 year of age). Over the past year, 198 patients had contact with the expert team (49 in the 0–1, 81 in the 2–9, and 68 in the 10–18-year group) and 288 with at least one other health-care professional (53 in the 0–1, 133 in the 2–9, and 102 in the 10–18-year group). Of the 83 patients discharged early, 34 reported health-care use. Two hundred twenty-eight participants reported current information needs of whom 23 were discharged early. HCU and information needs of Dutch children with NBPP remains considerable even in children who were discharged. Stricter follow-up and information provision for these patients is needed.

scholarly journals New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies

2021 ◽  
Author(s):  
Natalie Winter ◽  
Debora Vittore ◽  
Burkhard Gess ◽  
Jörg B. Schulz ◽  
Alexander Grimm ◽  
...  
Keyword(s):  
Disease Severity ◽  
Diagnostic Procedures ◽  
Hereditary Neuropathy ◽  
Nerve Ultrasound ◽  
Fabry’S Disease ◽  
Transthyretin Amyloidosis ◽  
Cross Sectional ◽  
Fabry's Disease ◽  
Hereditary Neuropathies ◽  
Muscle Ultrasound

AbstractHereditary neuropathies are of variable genotype and phenotype. With upcoming therapies, there is urgent need for early disease recognition and outcome measures. High-resolution nerve and muscle ultrasound is a dynamic, non-invasive, well-established tool in the field of inflammatory and traumatic neuropathies. In this study, we defined nerve and muscle ultrasound parameters as recognition and progression markers in 150 patients with genetically confirmed hereditary neuropathies, including Charcot-Marie-Tooth (CMT) disease (CMT1A, n = 55; other CMT1/4, n = 28; axonal CMT, n = 15; CMTX, n = 15), hereditary neuropathy with liability to pressure palsies (HNPP, n = 16), hereditary transthyretin-amyloidosis (ATTRv, n = 14), and Fabry’s disease (n = 7). The CMT1A, followed by the CMT1/4 group, had the most homogeneous enlargement of the nerve cross-sectional areas (CSA) in the ultrasound pattern sum (UPSS) and homogeneity score. Entrapment scores were highest in HNPP, ATTRv amyloidosis, and Fabry’s disease patients. In demyelinating neuropathies, the CSA correlated inversely with nerve conduction studies. The muscle echo intensity was significantly highest in the clinically most affected muscles, which was independent from the underlying disease cause and correlated with muscle strength and disease duration. Further correlations were seen with combined clinical (CMTES-2) and electrophysiological (CMTNS-2) scores of disease severity. We conclude that nerve ultrasound is a helpful tool to distinguish different types of hereditary neuropathies by pattern recognition, whereas muscle ultrasound is an objective parameter for disease severity. The implementation of neuromuscular ultrasound might enrich diagnostic procedures both in clinical routines and research.

State-of-the-art aortic imaging: Part II - applications in transcatheter aortic valve replacement and endovascular aortic aneurysm repair

VASA ◽  
2014 ◽  
Vol 43 (1) ◽  
pp. 6-26 ◽  
Author(s):  
Fabian Rengier ◽  
Philipp Geisbüsch ◽  
Paul Schoenhagen ◽  
Matthias Müller-Eschner ◽  
Rolf Vosshenrich ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Transcatheter Aortic Valve Replacement ◽  
Surgical Repair ◽  
Imaging Modality ◽  
Open Surgical Repair ◽  
Cross Sectional ◽  
Transcatheter Aortic Valve ◽  
Cross Sectional Imaging ◽  
Sectional Imaging

Transcatheter aortic valve replacement (TAVR) as well as thoracic and abdominal endovascular aortic repair (TEVAR and EVAR) rely on accurate pre- and postprocedural imaging. This review article discusses the application of imaging, including preprocedural assessment and measurements as well as postprocedural imaging of complications. Furthermore, the exciting perspective of computational fluid dynamics (CFD) based on cross-sectional imaging is presented. TAVR is a minimally invasive alternative for treatment of aortic valve stenosis in patients with high age and multiple comorbidities who cannot undergo traditional open surgical repair. Given the lack of direct visualization during the procedure, pre- and peri-procedural imaging forms an essential part of the intervention. Computed tomography angiography (CTA) is the imaging modality of choice for preprocedural planning. Routine postprocedural follow-up is performed by echocardiography to confirm treatment success and detect complications. EVAR and TEVAR are minimally invasive alternatives to open surgical repair of aortic pathologies. CTA constitutes the preferred imaging modality for both preoperative planning and postoperative follow-up including detection of endoleaks. Magnetic resonance imaging is an excellent alternative to CT for postoperative follow-up, and is especially beneficial for younger patients given the lack of radiation. Ultrasound is applied in screening and postoperative follow-up of abdominal aortic aneurysms, but cross-sectional imaging is required once abnormalities are detected. Contrast-enhanced ultrasound may be as sensitive as CTA in detecting endoleaks.

Psychological Resilience Provides No Independent Protection From Suicidal Risk

Crisis ◽  
2016 ◽  
Vol 37 (2) ◽  
pp. 130-139 ◽  
Author(s):  
Danica W. Y. Liu ◽  
A. Kate Fairweather-Schmidt ◽  
Richard Burns ◽  
Rachel M. Roberts ◽  
Kaarin J. Anstey
Keyword(s):  
Risk Factors ◽  
Well Being ◽  
Current Status ◽  
Psychological Resilience ◽  
Cross Sectional ◽  
Life Project ◽  
Resilience Factors ◽  
First Time

Abstract. Background: Little is known about the role of resilience in the likelihood of suicidal ideation (SI) over time. Aims: We examined the association between resilience and SI in a young-adult cohort over 4 years. Our objectives were to determine whether resilience was associated with SI at follow-up or, conversely, whether SI was associated with lowered resilience at follow-up. Method: Participants were selected from the Personality and Total Health (PATH) Through Life Project from Canberra and Queanbeyan, Australia, aged 28–32 years at the first time point and 32–36 at the second. Multinomial, linear, and binary regression analyses explored the association between resilience and SI over two time points. Models were adjusted for suicidality risk factors. Results: While unadjusted analyses identified associations between resilience and SI, these effects were fully explained by the inclusion of other suicidality risk factors. Conclusion: Despite strong cross-sectional associations, resilience and SI appear to be unrelated in a longitudinal context, once risk/resilience factors are controlled for. As independent indicators of psychological well-being, suicidality and resilience are essential if current status is to be captured. However, the addition of other factors (e.g., support, mastery) makes this association tenuous. Consequently, resilience per se may not be protective of SI.

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