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2.
J Immigr Minor Health ; 26(1): 247-252, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37676447

RESUMO

Social work plays a critical role in preventive health and mitigation of healthcare disparities, but few studies focus on its role in multi-specialty clinics serving marginalized populations. We aimed to characterize the role of outpatient neurology social work at an urban, safety-net hospital. In December 2021, we introduced a dedicated social worker to a neurology clinic primarily caring for an underserved patient population. We logged and characterized the first 200 consecutive hours of patient encounters, classifying interventions based on a recently popularized 10-category scheme in social work literature derived from natural language processing and machine learning algorithms. We characterized 125 encounters with neurology patients referred to social work. The neurology social worker spent the greatest amount of time on care coordination (40%), followed by housing insecurity (14%) and applications and reporting (11%). Interventions that required the most time per case included housing (129 min), applications and reporting (120 min), care coordination (96 min). The majority of interventions were directly related to the patient's underlying neurologic disorder, highlighting the importance of a neurology-specific social worker. Embedding a social worker in a multi-specialty neurology clinic may address many of the root causes of neurologic health disparities.


Assuntos
Doenças do Sistema Nervoso , Neurologia , Humanos , Pacientes Ambulatoriais , Provedores de Redes de Segurança , Serviço Social
4.
Artigo em Inglês | MEDLINE | ID: mdl-38117241

RESUMO

OBJECTIVE: To examine the postnatal course of the ophthalmic artery (OA) Doppler in women with hypertensive disorders of pregnancy (HDP) and evaluate the correlation between OA Dopplers and poor postnatal blood pressure control and renal dysfunction at 2-3 and 6-9 weeks postnatally. METHODS: Prospective cohort study of women with singleton pregnancies with HDP in a tertiary Pregnancy Hypertension clinic. Three visits were included: 1) the last antenatal hypertension clinic visit within 2 weeks prior to delivery, 2) 2-3 weeks postnatally, 3) 6-9 weeks postnatally. At each visit, maternal demographics, medical history, blood pressure and maternal OA Dopplers were performed. In addition, antenatally, fetal growth and fetal Dopplers were examined and at 6-9 weeks postnatally, estimated glomerular filtration rate and proteinuria were quantified. Study participants were divided into four hypertension groups, according to the blood pressure changes with time during the three visits. For the postnatal visits, hypertension was defined as systolic blood pressure (SBP) ≥140 mmHg and / or diastolic(D) BP ≥ 90 mmHg or SBP ≥130 mmHg or DBP ≥ 80 mmHg whilst taking antihypertensives. Group 1 was hypertensive in all three visits, Group 2 was hypertensive in the first two visits but was normotensive in the third visit, Group 3 was hypertensive in visits one and three, but normotensive in visit two, and Group 4 was hypertensive in visit one but normotensive in visits two and three. The longitudinal changes of mean arterial pressure (MAP) and peak systolic velocity (PSV) 1, PSV2 and the ratio of PSV2 / PSV1 over the three time points were examined by a repeated measure, multilevel linear mixed-effects analysis, controlling for maternal age, booking weight and use of antihypertensives. In addition, we examined the longitudinal change of OA Dopplers in women with different degrees of postnatal blood pressure control and in those with and without renal dysfunction at 6-9 weeks' postnatally. RESULTS: 108 women (86 new-onset and 22 chronic hypertension) were recruited into the study. When controlling for maternal age, booking weight and use of antihypertensive medication, a significant decline in Log10 MAP (p<0.001), Log10 PSV1 (p<0.01) and Log10 PSV 2 (p=0.01) was seen between visits 1 and 3. The Log10 PSVR did not change with time (p=0.06). When assessing OA Dopplers against hypertension group, Log10 PSV1 and Log10 PSV2 did not differ between the hypertension groups whilst group 4 had a lower Log10 PSVR compared to groups 1 (p<0.01), 2 (p=0.03) and 3 (p<0.01). When assessing renal dysfunction at 6-9 weeks postnatally, Log10 PSVR was lower in those without than with renal dysfunction (-0.021, p=0.01), whilst Log10 MAP, Log10 PSV1 and Log10 PSV2 values did not differ. The Log10 PSVR did not change with time and remained -0.12 (95%CI, -0.13 to -0.11) across the three visits. CONCLUSIONS: In women with HDP, the OA-PSVR was significantly higher in those with labile or persistently raised blood pressure postnatally when compared to women whose blood pressure normalised. Similarly, the OA-PSVR at 6-9 weeks postnatally was significantly higher in women with renal dysfunction versus those without dysfunction. This article is protected by copyright. All rights reserved.

5.
Res Sq ; 2023 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-37961526

RESUMO

Objective: Our objective is to explore challenges encountered by neurologists with the use of telemedicine in neurology. Methods: A cross- sectional study via an anonymous survey to explore neurologists' experiences with telemedicine. They survey was sent to randomly selected 200 participants from Academic Institutions in the United States. Descriptive statistics were reported as percentages for each survey question. Results: 110 neurologists completed the survey. Fifty-one percent of neurologists stated that they experienced technological issues in (1%-20%) of telemedicine visits and 57% of neurologists needed technological assistance from informational technology support. With regards to the impact of limited neurological examination via telemedicine, 34% of neurologists agreed that the limited examination makes them worried that they are providing a suboptimal care to patients and 55% recommended a subsequent in-person visit (in 1%-20% of telemedicine visits) for further evaluation. Among the challenges that hindered patients' ability to participate in telemedicine visits, 95% of neurologists rated patients' technological challenges with setting up telemedicine to be the most common issue encountered, 37% of neurologists rated patient's cognitive/mental disability to be the second most common challenge to complete telemedicine visits as well as availability of interpreter services for non-English speaking patients. Neurologists rated improving administrative support (39%), integration of EMR for video and telephone calls (37%), and sufficient time allotment to complete telemedicine visits (27%) to be the most important issues to address to optimize the use of telemedicine in neurology. Significance: Potential opportunities to improve neurologists' experiences in telemedicine include improving technological support, integration of virtual platforms within the EMR, and adequate administrative support. Patients with cognitive/physical disabilities may need additional support to engage in the health system via telemedicine.

6.
Zootaxa ; 5306(5): 586-594, 2023 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-37518665

RESUMO

A new genus and three new species are described from the canopy of Dipterocarp forest in Pasoh Forest Research in Malaysia: Daunothrips gen. n., D. striatus sp. n., Scirtothrips convexum sp. n. and Scirtothrips longifacies sp. n. The morphological characters of these new members of the Scirtothrips genus-group are discussed and illustrated.


Assuntos
Tisanópteros , Animais , Malásia , Florestas
7.
Amyloid ; 30(4): 357-363, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37140928

RESUMO

INTRODUCTION: Hereditary gelsolin (AGel) amyloidosis is a systemic disease that is characterised by neurologic, ophthalmologic, dermatologic, and other organ involvements. We describe the clinical features with a focus on neurological manifestations in a cohort of patients with AGel amyloidosis referred to the Amyloidosis Centre in the United States. METHODS: Fifteen patients with AGel amyloidosis were included in the study between 2005 and 2022 with the permission of the Institutional Review Board. Data were collected from the prospectively maintained clinical database, electronic medical records and telephone interviews. RESULTS: Neurologic manifestations were featured in 15 patients: cranial neuropathy in 93%, peripheral and autonomic neuropathy in 57% and bilateral carpal tunnel syndrome in 73% of cases. A novel p.Y474H gelsolin variant featured a unique clinical phenotype that differed from the one associated with the most common variant of AGel amyloidosis. DISCUSSION: We report high rates of cranial and peripheral neuropathy, carpal tunnel syndrome and autonomic dysfunction in patients with systemic AGel amyloidosis. The awareness of these features will enable earlier diagnosis and timely screening for end-organ dysfunction. The characterisation of pathophysiology will assist the development of therapeutic options in AGel amyloidosis.


Assuntos
Neuropatias Amiloides Familiares , Síndrome do Túnel Carpal , Amiloidose de Cadeia Leve de Imunoglobulina , Doenças do Sistema Nervoso , Disautonomias Primárias , Humanos , Gelsolina/genética , Gelsolina/metabolismo , Síndrome do Túnel Carpal/genética , Neuropatias Amiloides Familiares/complicações , Neuropatias Amiloides Familiares/genética , Amiloidose de Cadeia Leve de Imunoglobulina/complicações , Amiloidose de Cadeia Leve de Imunoglobulina/genética
8.
bioRxiv ; 2023 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-37066252

RESUMO

Key cellular functions depend on the transduction of extracellular mechanical signals by specialized membrane receptors including adhesion G-protein coupled receptors (aGPCRs). While recently solved structures support aGPCR activation through shedding of the extracellular GAIN domain, the molecular mechanisms underpinning receptor mechanosensing remain poorly understood. When probed using single-molecule atomic force spectroscopy and molecular simulations, ADGRG1 GAIN dissociated from its tethered agonist at forces significantly higher than other reported signaling mechanoreceptors. Strong mechanical resistance was achieved through specific structural deformations and force propagation pathways under mechanical load. ADGRG1 GAIN variants computationally designed to lock the alpha and beta subdomains and rewire mechanically-induced structural deformations were found to modulate the GPS-Stachel rupture forces. Our study provides unprecedented insights into the molecular underpinnings of GAIN mechanical stability and paves the way for engineering mechanosensors, better understanding aGPCR function, and informing drug-discovery efforts targeting this important receptor class.

9.
Clin Oncol (R Coll Radiol) ; 35(4): 255-261, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36764879

RESUMO

AIMS: The current gold standard of treatment for ductal carcinoma in situ (DCIS) is surgical resection with or without adjuvant radiotherapy. However, the increased detection and radical treatment of DCIS did not result in a declined incidence of invasive breast cancers, leading to the debate if DCIS has been overtreated. While ongoing randomised controlled trials on active surveillance of DCIS are still in progress, this systematic review aims to evaluate the best evidence on conservative treatment for DCIS from the literature. MATERIALS AND METHODS: This systematic review was conducted in line with the PRISMA statement. We included all relevant studies published up to June 2022 for analysis. The primary outcomes were overall survival and breast cancer-specific survival (BCSS) of conservative treatment for DCIS. RESULTS: Three studies, with a total of 34 007 women with low-risk DCIS, were included in the analysis. Active and conservative treatments both resulted in excellent 10-year BCSS, with no statistically insignificant difference (98.6% versus 96.0%, 31 478 women). One study comparing 5-year BCSS of active and conservative treatments only in subjects aged over 80 years also reported [AQ1]an insignificant difference (98.2% versus 96.0%, 2529 women). One study measuring 5- and 10-year overall survival between the treatment groups also reported [AQ1]an insignificant difference (5-year: 96.2% versus 92.4%; 10-year: 85.6% versus 86.7%, 31 106 women). CONCLUSION: BCSS between active and conservative treatment for women with low-risk DCIS is both excellent and comparable, suggesting that conservative treatment is a possible alternative without compromising survival.


Assuntos
Neoplasias da Mama , Carcinoma Ductal de Mama , Carcinoma Intraductal não Infiltrante , Feminino , Humanos , Idoso de 80 Anos ou mais , Carcinoma Intraductal não Infiltrante/terapia , Carcinoma Intraductal não Infiltrante/patologia , Tratamento Conservador , Carcinoma Ductal de Mama/patologia , Carcinoma Ductal de Mama/cirurgia , Neoplasias da Mama/patologia , Mama/patologia
10.
J Laryngol Otol ; 137(5): 565-569, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-35793835

RESUMO

OBJECTIVE: The operating theatre, as the primary learning environment for surgeons, needs to be conducive to achieve successful training. A validated 27-item questionnaire aimed at evaluating the training experience of higher surgical trainees in the operating theatre was developed. METHODS: The initial questionnaire was developed using a literature review and a focus group. Items were validated with content validity index (CVI) and Cronbach's alpha. RESULTS: The initial version of 33 questions was modified in the focus group into a 29-item 4-point Likert scale questionnaire covering 3 areas. Of these 29 items, 27 reached the threshold CVI of 0.87, and they achieved a Cronbach's alpha of 0.89 from 17 responses. CONCLUSION: The quantitative validations in the instrument are comparable to other existing medical education evaluation tools. Aspects of non-technical skills and human factors were featured heavily and perceived to be important for learning in the operating theatre.


Assuntos
Aprendizagem , Salas Cirúrgicas , Humanos , Inquéritos e Questionários , Educação de Pós-Graduação em Medicina , Competência Clínica , Reprodutibilidade dos Testes
11.
J Laryngol Otol ; 137(8): 902-905, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36503634

RESUMO

OBJECTIVE: Given the uncertainty regarding the predictive value of unilateral tonsillar enlargement and/or lesion in malignancies, this study aimed to evaluate the efficacy of unilateral tonsillar enlargement and/or lesion referral criterion in the adult suspected head and neck cancer pathway. METHODS: All two-week wait referrals received in 2018-2019 were reviewed. All patients referred with unilateral tonsillar enlargement and/or lesion were included and analysed for patient demographic data, presenting symptoms, initial clinic outcomes and final diagnoses. RESULTS: A total of 4934 urgent head and neck cancer referrals were analysed, and 1.9 per cent of these had unilateral tonsillar enlargement and/or lesion. Only 10 patients were diagnosed with tonsil cancer. All the positive tonsil cancer cases had at least one additional head and neck red flag symptom. CONCLUSION: The referral criterion for unilateral tonsillar enlargement and/or lesion may be of limited benefit in an already economically challenged National Health Service. Further multicentre studies should be undertaken to refine conclusions on the value of unilateral tonsillar enlargement and/or lesion alone as a criterion for the head and neck cancer two-week wait pathway.


Assuntos
Neoplasias de Cabeça e Pescoço , Neoplasias Tonsilares , Humanos , Adulto , Neoplasias Tonsilares/diagnóstico , Neoplasias Tonsilares/patologia , Medicina Estatal , Tonsila Palatina/patologia , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/patologia , Hipertrofia , Estudos Retrospectivos
13.
Neurology ; 100(14): 674-682, 2023 04 04.
Artigo em Inglês | MEDLINE | ID: mdl-36581467

RESUMO

We report a case of a 23-year-old man who presented with progressive asymmetric weakness and numbness in his distal extremities over 4 months, with initial symptoms starting days after a coronavirus 2019 (COVID-19) vaccine booster. Initial neurologic examination was notable for distal weakness of both upper and lower extremities that was more pronounced on the left, complete areflexia, and decreased distal sensation to pinprick and vibration without loss of proprioception. Nerve conduction studies demonstrated a generalized, non-length-dependent, sensorimotor, demyelinating polyneuropathy, with conduction block seen in multiple compound muscle action potentials. Sensory nerve action potentials were normal in absolute terms but had asymmetric amplitudes.Based on the patient's nerve conduction studies, he was diagnosed with a specific immune-mediated neuromuscular disorder. He was started on intravenous immunoglobulin, but within days of the first infusions experienced a rare and potentially life-threatening complication. He received appropriate treatment and was started on alternative immunotherapy, after which his symptoms improved.Our case exemplifies the features of a specific subtype of a more common immune-mediated neuromuscular diagnosis with unique elements of history, examination, and nerve conduction studies that required interpretation in the clinical context. We also discuss a rare side effect of a commonly used immunotherapy and its risk factors and comment on the likelihood that this diagnosis may be related to a preceding COVID-19 vaccine booster.


Assuntos
COVID-19 , Doenças Neuromusculares , Masculino , Humanos , Adulto Jovem , Adulto , Hipestesia/etiologia , COVID-19/complicações , Raciocínio Clínico
14.
J Immigr Minor Health ; 24(6): 1590-1593, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35976473

RESUMO

The coronavirus 2019 pandemic led to rapid expansion of outpatient telemedicine. We sought to characterize patient factors influencing outpatient teleneurology utilization at an urban safety-net hospital. We reviewed all neurology televisits scheduled between June 15, 2020 to April 15, 2021. We used the chi-squared test and multivariate logistic regression to characterize patient demographic factors associated with televisit completion and video use. Of 8875 scheduled televisit encounters, 7530 were completed successfully, 44% via video. Non-English speaking patients, Black patients, Latinx patients, and those with a zip code-linked annual income less than $50,000 were less likely to successfully complete a scheduled televisit. The same demographic groups other than Latinx ethnicity were also less likely to use the video option. Our study found unequal telehealth utilization based on patients' demographic factors. Currently declining telemedicine reimbursement rates asymmetrically affect audio-only visits, which may limit telehealth access for vulnerable patient populations.


Assuntos
COVID-19 , Telemedicina , Humanos , Pandemias , Provedores de Redes de Segurança , Modelos Logísticos
15.
Work ; 73(2): 377-382, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35938279

RESUMO

BACKGROUND: The coronavirus disease-2019 pandemic led to rapid expansion of telehealth services. This was speculated to improve healthcare access among underserved populations, including individuals unable to take time off work or arrange transportation. OBJECTIVE: We completed a quality improvement project to evaluate the feasibility of hybrid consultations that combined televisits and abbreviated in-person visits for neuromuscular referrals. METHODS: Using a censoring date of August 5, 2021, we reviewed all outpatient neuromuscular consultations from August 5, 2020 to February 5, 2021. For both hybrid and traditional in-person consultations, we reviewed no-show rates, completion rates of ordered diagnostic workup, and billing codes. For hybrid consultations only, we also reviewed intervals between initial televisit and subsequent examination and rates of video-enhanced versus audio-only televisits. RESULTS: During the study period, we completed 153 hybrid and 59 in-person new-patient consultations (no-show rates 9% and 27% respectively.) For hybrid consultations, 77% and 73% of laboratory and imaging studies were completed respectively, compared to 89% and 91% for in-person consultations. For hybrid visits, average RVUs (a marker for reimbursement) per consultation depended on whether audio-only televisits were billed as telephone calls or E/M visits per insurance payer rules, while video-enhanced televisits were uniformly billed as E/M visits. This resulted in average RVUs between 2.09 and 2.26, compared to 2.30 for in-person consultations. CONCLUSIONS: Telehealth-based hybrid neuromuscular consultations are feasible with minor caveats. However, the future of telehealth may be restricted by decreasing reimbursement rates particularly for audio-only televisits, limiting its potential to improve healthcare access.


Assuntos
COVID-19 , Telemedicina , Humanos , COVID-19/epidemiologia , Pandemias , Telemedicina/métodos , Acesso aos Serviços de Saúde , Encaminhamento e Consulta
16.
Neurol Clin Pract ; 12(3): 218-222, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35747546

RESUMO

Background and Objectives: Medical errors are estimated to cause 7,000 deaths and cost 17-29 billion USD per year, but there is a lack of published real-world data on preventable errors, in particular in hospital-based neurology. We sought to characterize the profile of errors that occur on the inpatient neurology services at our institution to inform strategies on future error prevention. Methods: We reviewed all cases of preventable errors occurring on the inpatient neurology services from July 1, 2018, to June 30, 2020, logged in institutional error reporting systems and reviewed at departmental morbidity and mortality conferences (M&MC). Each case was characterized by primary category of error, level of harm as determined by the Agency for Healthcare Research & Quality Common Format Harm Scale version 1.2, primary intervention, and recurrence within 1 year, with a final censoring date of June 30, 2021. Results: Of 72 cases, 43 (60%) were attributed to errors in clinical decision making and 20 (28%) to systems or electronic health record-related errors. The majority of cases resulted in in-conference education on systems-based errors (29%) at departmental M&MCs followed by in-conference education on clinical neurology (25%). Among errors classified primarily as clinical, 28% were addressed via systems-based interventions including in-conference education on systems issues and changes in written protocol. In 23 cases (32%), a similar error recurred within 1 year of the presentation. In total, 7 cases (10%) resulted in a change in written protocol, none with recurrences. Discussion: Systems-based interventions may reduce both clinical and systems-based errors, and protocol changes are effective when feasible. Given the important goal of optimizing care for every patient, quality leaders should conduct continuous audits of preventable errors and quality improvement systems in their clinical areas.

17.
Am J Hematol ; 97(9): 1189-1199, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35731907

RESUMO

High-dose melphalan and stem cell transplantation (HDM/SCT) is an effective treatment for selected patients with AL amyloidosis. We report the long-term outcomes of 648 patients with AL amyloidosis treated with HDM/SCT over 25 years. Hematologic CR was achieved by 39% of patients. The median duration of hematologic CR was 12.3 years, and 45% of patients with a hematologic CR had no evidence of a recurrent plasma cell dyscrasia at 15 years after HDM/SCT. With a median follow-up interval of 8 years, the median event-free survival (EFS) and overall survival (OS) were 3.3 and 7.6 years, respectively. Patients with a hematologic CR had a median OS of 15 years, and 30% of these patients survived >20 years. On multivariable analysis, dFLC >180 mg/L and BM plasma cells >10% were independently associated with shorter EFS, whereas BNP >81 pg/mL, troponin I > 0.1 ng/mL, and serum creatinine >2.0 mg/dL were independently associated with shorter OS. We developed a prognostic score for EFS, which incorporated dFLC >180 mg/L and BMPC% >10% as adverse risk factors. Patients with low-risk (0 factors), intermediate-risk (1 factor), and high-risk (2 factors) disease had median EFS estimates of 5.3, 2.8, and 1.0 years, respectively (p < .001). The 100-day treatment-related mortality rate was 3% in the latest treatment period (2012-2021), and the 25-year risk of t-MDS/AML was 3%. We conclude that HDM/SCT induces durable hematologic responses and prolonged survival with improved safety in selected patients with AL amyloidosis.


Assuntos
Amiloidose , Transplante de Células-Tronco Hematopoéticas , Amiloidose de Cadeia Leve de Imunoglobulina , Amiloidose/complicações , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Estudos Longitudinais , Melfalan/uso terapêutico , Transplante de Células-Tronco , Transplante Autólogo , Resultado do Tratamento
18.
Neurohospitalist ; 12(2): 273-275, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35419158

RESUMO

This article characterizes 2 cases of longitudinally extensive transverse myelitis (LETM) that did not respond to immunotherapy and were diagnosed by biopsy as primary central nervous system (CNS) malignancies. Diffuse H3 K27M-mutant glioma is a recently described entity with very few cases of isolated spinal disease described in adults. Primitive neuroectodermal tumor is similarly uncommon in the spinal cord. Malignancies should be considered in patients who fail to improve with immunomodulatory therapy. We believe the experiences of our center will raise awareness about that point, broaden the existing understanding of the diagnostic approach to LETM, and highlight the need for additional studies.

19.
Med Sci Educ ; 32(2): 545-552, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35261814

RESUMO

Introduction: While the use of e-learning tools in medical education is guided by robust literature on their design and evaluation, there is sparse literature on strategies that maximize their adoption among trainees. Methods: In this scoping review, we searched Web of Science for studies on technology adoption theories as applied to education, using a final censoring date of August 1, 2021. Results: Based on our findings, we identified three representative theories: (1) technology acceptance model, (2) technology adoption life cycle, and (3) domestication theory. Discussion: We describe these theories in detail, examine their prior applications, and propose specific uses within medical e-learning.

20.
Amyloid ; 29(3): 184-189, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35253562

RESUMO

BACKGROUND: The recent availability of disease-modifying therapies for hereditary transthyretin amyloid (ATTRv) amyloidosis warrants urgency for earlier diagnosis and timely identification of active disease state among genetic carriers. METHODS: We reviewed clinical neurological data of all patients with ATTRv amyloidosis with initial visits at our amyloidosis centre between January 2016 and December 2018. We abstracted the signs and symptoms of neurological manifestations, as well as rates and patterns of diagnostic testing. RESULTS: Of 92 patients with 19 different transthyretin (TTR) mutations, 66 and 36% had symptoms attributed to large-fibre and small-fibre neuropathy, respectively, compared to 75 and 66% with corresponding examination findings. Thirty-six patients with V122I ATTR mutation had asymptomatic polyneuropathy identified on neurological examination, eight without concurrent cardiac disease. Seventy-three percent of patients had symptoms of carpal tunnel syndrome (CTS), while 26% had dysautonomia. The average delays between the onset of symptoms of large fibre neuropathy (LFN) or CTS to ATTRv amyloidosis diagnosis were 2.9 and 6.7 years, respectively. DISCUSSION: Our study found higher rates of polyneuropathy by examination than patient-reported symptoms, especially among those with V122I TTR amyloidosis, signalling asymptomatic polyneuropathy. Our findings suggest the need for routine neurological examinations and other testing for genetic carriers to achieve earlier identification of active disease state.


Assuntos
Neuropatias Amiloides Familiares , Síndrome do Túnel Carpal , Polineuropatias , Neuropatias Amiloides Familiares/complicações , Neuropatias Amiloides Familiares/diagnóstico , Neuropatias Amiloides Familiares/genética , Síndrome do Túnel Carpal/genética , Diagnóstico Tardio , Humanos , Pré-Albumina/genética
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