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1.
Cureus ; 16(6): e62079, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38989344

ABSTRACT

INTRODUCTION: Insurance companies often mandate six weeks of physical therapy (PT) prior to approving MRIs for patients with atraumatic rotator cuff (RTC) tears. While this is designed to limit unnecessary imaging orders, it can increase healthcare costs and delay diagnosis and surgery. This study investigated the incidence of full- and partial-thickness tears when an MRI was ordered at the time of initial consultation for shoulder pain by an orthopedic provider. METHODS: A retrospective review of patients who had an MRI ordered upon initial orthopedic consultation for chronic shoulder pain was conducted. The primary outcome measured was the presence of RTC tears as determined by the MRI report. The cost of six weeks of PT versus the cost of immediate MRI in these patients was collected from our institution's financial database. ANOVA, independent T-test, and chi-square test were used to analyze the differences between groups. RESULTS: A total of 365 patients were included. There were no significant differences in demographics between patients with full, partial, or no tears, with the exception that patients with full-thickness tears were older. Specifically, 43.0% had a full-thickness tear, 24.7% had a partial-thickness tear, and 32.2% had no tear on MRI. A total of 56.1% of the full-thickness tears proceeded to surgery. The cost of an upper extremity MRI without contrast averages $2,268, while two sessions of PT per week for six weeks totals $2,328. DISCUSSION: Over 67% of MRI orders yielded a positive finding of an RTC tear and remained at 67.2% in the absence of a history of conservative treatment, validating a specialist's clinical suspicion for an RTC tear and indication for MRI. Pre-MRI PT to satisfy insurance requirements may therefore delay intervention and increase healthcare costs when an orthopedic provider believes an MRI is warranted for clinical decision-making.

2.
Syst Rev ; 13(1): 61, 2024 Feb 08.
Article in English | MEDLINE | ID: mdl-38331893

ABSTRACT

BACKGROUND: Objective measures of screen time are necessary to better understand the complex relationship between screen time and health outcomes. However, current objective measures of screen time (e.g., passive sensing applications) are limited in identifying the user of the mobile device, a critical limitation in children's screen time research where devices are often shared across a family. Behavioral biometrics, a technology that uses embedded sensors on modern mobile devices to continuously authenticate users, could be used to address this limitation. OBJECTIVE: The purpose of this scoping review was to summarize the current state of behavioral biometric authentication and synthesize these findings within the scope of applying behavioral biometric technology to screen time measurement. METHODS: We systematically searched five databases (Web of Science Core Collection, Inspec in Engineering Village, Applied Science & Technology Source, IEEE Xplore, PubMed), with the last search in September of 2022. Eligible studies were on the authentication of the user or the detection of demographic characteristics (age, gender) using built-in sensors on mobile devices (e.g., smartphone, tablet). Studies were required to use the following methods for authentication: motion behavior, touch, keystroke dynamics, and/or behavior profiling. We extracted study characteristics (sample size, age, gender), data collection methods, data stream, model evaluation metrics, and performance of models, and additionally performed a study quality assessment. Summary characteristics were tabulated and compiled in Excel. We synthesized the extracted information using a narrative approach. RESULTS: Of the 14,179 articles screened, 122 were included in this scoping review. Of the 122 included studies, the most highly used biometric methods were touch gestures (n = 76) and movement (n = 63), with 30 studies using keystroke dynamics and 6 studies using behavior profiling. Of the studies that reported age (47), most were performed exclusively in adult populations (n = 34). The overall study quality was low, with an average score of 5.5/14. CONCLUSION: The field of behavioral biometrics is limited by the low overall quality of studies. Behavioral biometric technology has the potential to be used in a public health context to address the limitations of current measures of screen time; however, more rigorous research must be performed in child populations first. SYSTEMATIC REVIEW REGISTRATION: The protocol has been pre-registered in the Open Science Framework database ( https://doi.org/10.17605/OSF.IO/92YCT ).


Subject(s)
Biometry , Smartphone , Adult , Child , Humans , Biometry/methods , Time Factors , Sample Size , Demography
3.
Plast Reconstr Surg Glob Open ; 12(1): e5535, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38250205

ABSTRACT

Background: Polyethylene glycol (PEG) is a synthetic, biodegradable, and hyperosmotic material promising in the treatment of acute peripheral nerve injuries. Our team set out to investigate the impact of fibrin glue upon PEG fusion in a rat model. Methods: Eighteen rats underwent sciatic nerve transection and PEG fusion. Electrophysiologic testing was performed to measure nerve function and distal muscle twitch. Fibrin glue was applied and testing repeated. Due to preliminary findings, fibrin glue was applied to an uncut nerve in five rodents and testing was conducted before and after glue application. Mann-Whitney U tests were used to compare median values between outcome measures. A Shapiro-Wilk test was used to determine normality of data for each comparison, significance set at a P value less than 0.05. Results: PEG fusion was confirmed in 13 nerves with no significant change in amplitude (P = 0.054), latency (P = 0.114), or conduction velocity (P = 0.114). Stimulation of nerves following PEG fusion produced distal muscle contraction in 100% of nerves. Following application of fibrin glue, there was a significant reduction in latency (P = 0.023), amplitude (P < 0.001), and conduction velocity (P = 0.023). Stimulation of the nerve after application of fibrin glue did not produce distal muscle twitch. Five uncut nerves with fibrin glue application blocked distal muscle contraction following stimulation. Conclusions: Our data suggest that fibrin glue alters the nerve's function. The immediate confirmation of PEG fusion via distal muscle twitch is blocked with application fibrin glue in this experimental model. Survival and functional outcome studies are necessary to understand if this has implications on the long-term functional outcomes.

4.
Reprod Sci ; 31(2): 488-504, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37725247

ABSTRACT

There are approximately 5 million pregnancies per year in the USA, with 1 million ending in miscarriage (a loss occurring prior to 20 weeks of gestation) and over 20,000 ending in stillbirth at or beyond 20 weeks of gestation. As many as 50% of these losses are unexplained. Our objective was to evaluate the effect of expanding the placental pathology diagnostic categories to include the explicit categories of (1) dysmorphic chorionic villi and (2) small placenta in examining previously unexplained losses. Using a clinical database of 1256 previously unexplained losses at 6-43 weeks of gestation, the most prevalent abnormality associated with each loss was determined through examination of its placental pathology slides. Of 1256 cases analyzed from 922 patients, there were 878 (69.9%) miscarriages and 378 (30.1%) antepartum stillbirths. We determined the pathologic diagnoses for 1150/1256 (91.6%) of the entire series, 777/878 (88.5%) of the miscarriages (< 20 weeks' gestation), and 373/378 (98.7%) of the stillbirths (≥ 20 weeks' gestation). The most common pathologic feature observed in unexplained miscarriages was dysmorphic chorionic villi (757 cases; 86.2%), a marker associated with genetic abnormalities. The most common pathologic feature observed in unexplained stillbirths was a small placenta (128 cases; 33.9%). Our classification system reinforced the utility of placental examination for elucidating potential mechanisms behind pregnancy loss. The improved rate of diagnosis appeared to be the result of filling a gap in previous pregnancy loss classification systems via inclusion of the categories of dysmorphic chorionic villi and small placenta.


Subject(s)
Abortion, Spontaneous , Placenta Diseases , Pregnancy , Humans , Female , Abortion, Spontaneous/pathology , Stillbirth , Placenta/pathology , Placenta Diseases/pathology , Gestational Age
5.
J Inherit Metab Dis ; 46(5): 874-905, 2023 09.
Article in English | MEDLINE | ID: mdl-37078180

ABSTRACT

Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body. Disruption to the normal function of the lysosome can result in the toxic accumulation of storage products, often leading to irreparable cellular damage and organ dysfunction followed by premature death. The majority of LSDs have no curative treatment, with many clinical subtypes presenting in early infancy and childhood. Over two-thirds of LSDs present with progressive neurodegeneration, often in combination with other debilitating peripheral symptoms. Consequently, there is a pressing unmet clinical need to develop new therapeutic interventions to treat these conditions. The blood-brain barrier is a crucial hurdle that needs to be overcome in order to effectively treat the central nervous system (CNS), adding considerable complexity to therapeutic design and delivery. Enzyme replacement therapy (ERT) treatments aimed at either direct injection into the brain, or using blood-brain barrier constructs are discussed, alongside more conventional substrate reduction and other drug-related therapies. Other promising strategies developed in recent years, include gene therapy technologies specifically tailored for more effectively targeting treatment to the CNS. Here, we discuss the most recent advances in CNS-targeted treatments for neurological LSDs with a particular emphasis on gene therapy-based modalities, such as Adeno-Associated Virus and haematopoietic stem cell gene therapy approaches that encouragingly, at the time of writing are being evaluated in LSD clinical trials in increasing numbers. If safety, efficacy and improved quality of life can be demonstrated, these therapies have the potential to be the new standard of care treatments for LSD patients.


Subject(s)
Lysosomal Storage Diseases , Quality of Life , Humans , Child , Lysosomal Storage Diseases/genetics , Lysosomal Storage Diseases/therapy , Lysosomal Storage Diseases/metabolism , Genetic Therapy , Brain/metabolism , Lysosomes , Enzyme Replacement Therapy
7.
J Am Coll Radiol ; 20(1): 79-86, 2023 01.
Article in English | MEDLINE | ID: mdl-36494062

ABSTRACT

PURPOSE: Many practices have implemented support services to assist radiologists with noninterpretive tasks; however, little research has been performed to assess the overall effect of these services. The purpose of this study was to evaluate the effect of a team of imaging service navigators (ISNs) incorporated into a practice on (1) number of communications, (2) time saved by radiologists, and (3) radiologist satisfaction with the service. METHODS: The numbers and types of reports dictated by radiologists were captured for 6-month periods before and after ISN implementation. Communication rates before and after implementation were then calculated. The amount of perceived time savings using the ISN team and satisfaction with the service were assessed through pre- and postimplementation surveys of participating radiologists. Mean and median time savings and satisfaction rates were calculated. RESULTS: The overall communication rate increased from 2.196% before ISNs to 3.278% after ISNs (49% increase; 95% confidence interval, 47%-52%). Communication rates increased among all communication subtypes (critical, urgent, routine, and actionable), with the highest increases in urgent (94%) and actionable (75%) findings. Before implementation, radiologists reported spending 39 min on average per day on communications tasks, with only 33% of radiologists indicating that the communication process was efficient. After implementation, radiologists reported mean time savings of 28 min (95% confidence interval, 19.9-35.1), and 82% of radiologists indicated a positive or highly positive view of the ISN service. CONCLUSIONS: After ISN implementation, communication rates increased and radiologists reported spending less time performing communications. Most radiologists were satisfied with the service.


Subject(s)
Diagnostic Imaging , Radiologists , Humans , Communication , Surveys and Questionnaires , Personal Satisfaction
8.
Obstet Med ; 15(2): 104-107, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35845229

ABSTRACT

Background: Biosimilar tumour necrosis factor inhibitors (TNFi) are increasingly used to treat inflammatory immune-mediated disorders as they cost less than the originator biologic drug. More women are therefore becoming pregnant on biosimilar TNFi. This is the first paper to explore the safety and efficacy of biosimilar therapies in pregnancy. Methods: A retrospective review of clinical data reviewed pregnancy outcomes and inflammatory disease activity in 18 pregnancies where the mother was using a biosimilar TNFi at conception. Results: Biosimilar therapy was not associated with congenital abnormalities, preterm birth or other adverse pregnancy outcomes. Stopping biosimilar TNFi in pregnancy was associated with childbirth at an earlier gestation, as well as a flare of inflammatory disease in pregnancy or post-partum. Conclusions: Women and clinicians should feel confident in using biosimilar TNFi in early pregnancy, and continuing them through pregnancy to prevent flares in late pregnancy or the early post-partum.

9.
PLoS One ; 17(3): e0264733, 2022.
Article in English | MEDLINE | ID: mdl-35231069

ABSTRACT

OBJECTIVE: Trophoblast inclusions-cross sections of abnormal trophoblast bilayer infoldings-have previously been associated with aneuploidy, placenta accreta, and prematurity. This study was conducted to establish the relationship between trophoblast inclusions and a range of placental, pregnancy, and birth outcomes in a patient population with high smoking and alcohol exposure. Specifically, we sought to evaluate the association between the presence of trophoblast inclusions and 1) three primary birth outcomes: full-term birth, preterm birth, and stillbirth; 2) gestational age at delivery; and 3) specific placental pathologies. METHODS: Two slides containing chorionic villi were evaluated from 589 placentas that were collected from Stellenbosch University in Cape Town, South Africa as part of the prospective, multicenter cohort Safe Passage Study of the Prenatal Alcohol and SIDS and Stillbirth Network. The subsample included 307 full-term live births, 212 preterm live births, and 70 stillbirths. RESULTS: We found that the odds of identifying at least one trophoblast inclusion across two slides of chorionic villi was significantly higher for placentas from preterm compared to term liveborn deliveries (OR = 1.74; 95% CI: 1.22, 2.49, p = 0.002), with an even greater odds ratio for placentas from stillborn compared to term liveborn deliveries (OR = 4.95; 95% CI: 2.78, 8.80, p < 0.001). Gestational age at delivery was inversely associated with trophoblast inclusion frequency. Trophoblast inclusions were significantly associated with small for gestational age birthweight, induction of labor, villous edema, placental infarction, and inflammation of the chorionic plate. CONCLUSIONS: The novel associations that we report warrant further investigation in order to understand the complex network of biological mechanisms through which the factors that lead to trophoblast inclusions may influence or reflect the trajectory and health of a pregnancy. Ultimately, this line of research may provide critical insights that could inform both clinical and research applications.


Subject(s)
Pregnancy Complications , Premature Birth , Female , Gestational Age , Humans , Infant, Newborn , Placenta/pathology , Pregnancy , Pregnancy Complications/pathology , Premature Birth/pathology , Prospective Studies , South Africa , Stillbirth , Trophoblasts/pathology
10.
SSM Popul Health ; 15: 100898, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34458551

ABSTRACT

BACKGROUND: Nutrition incentive (NI) programs increase the purchase of fruits and vegetables (FVs) among low-income participants. Double Up Food Bucks (DUFB) is a robust statewide NI program in the United States. The purpose of this paper is to report findings from DUFB in Michigan describing the factors related to FV intake (FVI) and food insecurity among participants in a NI program. METHODS: We administered a repeated cross-sectional survey with a convenience sample of DUFB participants at farmers markets and grocery stores (over the 2016, 2017, 2018 seasons). The survey was conducted online via paper-pencil. Descriptive statistics were calculated for all variables. A logistic regression model estimated household food insecurity and a linear regression estimated FVI with DUFB use/perceptions, sociodemographics, and health status as independent variables (significance level = p < 0.05). RESULTS: Descriptive results revealed that participants that completed surveys at grocery stores tended to be more racially-ethnically diverse and younger than participants that completed surveys at farmers markets. Participants with lower length of time participating in DUFB (i.e., lower dose) (p < 0.001), greater FV purchases (p < 0.05), and lower perceived health status (p < 0.001) tended to report being food insecure more frequently. Participants with increased length of time participating in DUFB (p < 0.05), greater FV purchases (p < 0.001), being male (p < 0.01), and greater perceived health status (p < 0.001) tended to report higher levels of FVI more frequently. CONCLUSIONS: Longer participation in DUFB leads to improved outcomes with FVI and food security, suggesting that NI programs do have the intended positive impact they were designed to achieve.

11.
Geriatr Orthop Surg Rehabil ; 12: 21514593211036234, 2021.
Article in English | MEDLINE | ID: mdl-34422438

ABSTRACT

CASE: A 62-year-old man without significant medical history (no anticoagulation) presented to the emergency department with intense leg pain following a short track race, during which he felt a pop in his calf. His physical exam was highly concerning for acute compartment syndrome (ACS) despite the lack of a typical mechanism or fracture. Compartment pressures were measured and found to be significantly elevated. He underwent compartment releases revealing a medial soleus tear with 400-500 cc hematoma. CONCLUSION: The case presents a patient with ACS after a soleus muscle tear. Prompt recognition and fasciotomy led to a good clinical outcome. Physicians should recognize that not only gastrocnemius tears can lead to compartment syndrome.

14.
Placenta ; 114: 133-138, 2021 10.
Article in English | MEDLINE | ID: mdl-33941390

ABSTRACT

INTRODUCTION: Trophoblast inclusions (TIs) are associated with aneuploidy and pregnancy loss and have thus been considered to be a marker of genetic abnormality. However, to date, no study has specifically explored whether TIs are a manifestation of fetal genetics or, rather, the result of the intrauterine environment. The goal of this study was to compare the frequency of TIs in the placentas of monozygotic (MZ) and dizygotic (DZ) twin pairs in order to determine whether the formation of TIs is genetically driven or not. METHODS: We performed a retrospective case series of placentas from 48 twin pairs. The placentas were grouped based on zygosity: MZ, DZ, or unknown (UZ). The average number of total TIs per slide was calculated for each twin individual and the mean absolute difference in the total TIs per slide between the twin pairs was calculated for each zygosity group and compared. RESULTS: The mean difference in the total TIs per slide for DZ twins was significantly greater than the mean difference in the total TIs per slide for MZ twins (p = 0.003). The mean difference in the total TIs per slide for the UZ group was also significantly greater than the mean difference in total TIs per slide between MZ twin pairs (p = 0.028). DISCUSSION: Our finding that MZ twins were significantly more concordant than DZ twins for the average number of TIs per slide supports the conclusion that TIs are intrinsic to the genetics of the fetus, not the uterine environment.


Subject(s)
Diseases in Twins/genetics , Fetal Diseases/genetics , Placenta/pathology , Trophoblasts/pathology , Aneuploidy , Diseases in Twins/pathology , Female , Fetal Diseases/pathology , Humans , Male , Pregnancy , Retrospective Studies
15.
Microbiol Resour Announc ; 10(13)2021 Apr 01.
Article in English | MEDLINE | ID: mdl-33795339

ABSTRACT

We isolated three strains of Acidithiobacillus spp. from an acidic spring in a freshwater wetland. Here, we report the draft genomes of these three strains, which were obtained using Illumina-based sequencing technology.

16.
Placenta ; 103: 172-176, 2021 01 01.
Article in English | MEDLINE | ID: mdl-33152642

ABSTRACT

We sought to examine placentas enriched for trophoblast inclusions (TIs) in order to characterize, quantify, and examine the interrelations between subtypes of TIs to better understand their underlying biology. We examined a cohort of 600 placentas from deliveries between 200 and 430 weeks of gestation. Forty-five percent of the placentas had at least one TI in the two slides examined. Four percent of the placentas had 10 or more TIs and two placentas had more than 70 TIs. Four distinct TI subtypes were observed: inclusionoids (early forming inclusions), inclusions, calcified inclusions, and calcified bodies. We suggest this reflects a developmental trajectory of TI maturation, the timing of which might be useful when comparing TI expression to clinical outcomes.


Subject(s)
Inclusion Bodies/metabolism , Placenta/metabolism , Trophoblasts/metabolism , Adult , Biomarkers/metabolism , Calcinosis/diagnosis , Calcinosis/metabolism , Calcinosis/pathology , Female , Gestational Age , Humans , Image Processing, Computer-Assisted , Placenta/cytology , Placenta/diagnostic imaging , Placenta/ultrastructure , Pregnancy , Pregnancy Outcome , Trophoblasts/cytology , Trophoblasts/ultrastructure , Young Adult
17.
Geophys Res Lett ; 47(23): e2020GL090164, 2020 Dec 16.
Article in English | MEDLINE | ID: mdl-33349735

ABSTRACT

On 19 March 2020, California put in place Stay-At-Home orders to reduce the spread of SARS-CoV-2. As a result, decreases up to 50% in traffic occurred across the South Coast Air Basin (SoCAB). We report that, compared to the 19 March to 30 June period of the last 5 years, the 2020 concentrations of PM2.5 and NO x showed an overall reduction across the basin. O3 concentrations decreased in the western part of the basin and generally increased in the downwind areas. The NO x decline in 2020 (approximately 27% basin-wide) is in addition to ongoing declines over the last two decades (on average 4% less than the -6.8% per year afternoon NO2 concentration decrease) and provides insight into how air quality may respond over the next few years of continued vehicular reductions. The modest changes in O3 suggests additional mitigation will be necessary to comply with air quality standards.

18.
Nat Microbiol ; 5(12): 1532-1541, 2020 12.
Article in English | MEDLINE | ID: mdl-32868923

ABSTRACT

Fluoxazolevir is an aryloxazole-based entry inhibitor of hepatitis C virus (HCV). We show that fluoxazolevir inhibits fusion of HCV with hepatic cells by binding HCV envelope protein 1 to prevent fusion. Nine of ten fluoxazolevir resistance-associated substitutions are in envelope protein 1, and four are in a putative fusion peptide. Pharmacokinetic studies in mice, rats and dogs revealed that fluoxazolevir localizes to the liver. A 4-week intraperitoneal regimen of fluoxazolevir in humanized chimeric mice infected with HCV genotypes 1b, 2a or 3 resulted in a 2-log reduction in viraemia, without evidence of drug resistance. In comparison, daclatasvir, an approved HCV drug, suppressed more than 3 log of viraemia but is associated with the emergence of resistance-associated substitutions in mice. Combination therapy using fluoxazolevir and daclatasvir cleared HCV genotypes 1b and 3 in mice. Fluoxazolevir combined with glecaprevir and pibrentasvir was also effective in clearing multidrug-resistant HCV replication in mice. Fluoxazolevir may be promising as the next generation of combination drug cocktails for HCV treatment.


Subject(s)
Antiviral Agents/administration & dosage , Hepacivirus/drug effects , Hepatitis C/drug therapy , Virus Internalization/drug effects , Animals , Carbamates/administration & dosage , Disease Models, Animal , Dogs , Drug Therapy, Combination , Genotype , Hepacivirus/classification , Hepacivirus/genetics , Hepacivirus/physiology , Hepatitis C/virology , Humans , Imidazoles/administration & dosage , Male , Mice , Pyrrolidines/administration & dosage , Rats , Rats, Sprague-Dawley , Valine/administration & dosage , Valine/analogs & derivatives , Viral Envelope Proteins/genetics , Viral Envelope Proteins/metabolism
19.
Sci Rep ; 10(1): 1486, 2020 01 30.
Article in English | MEDLINE | ID: mdl-32001726

ABSTRACT

The identification of corrosion, cracks and defects in pipelines used for transporting oil and gas can reduce the possibility of leaks, and consequently, it can limit the extent of an environmental disaster, public hazard and the associated financial impact of such events. Typically, corrosion in oil pipelines is measured with non-destructive ultrasonic or electromagnetic techniques, on the basis that corrosion and defects are often manifest as a change of thickness in the steel from which pipelines are made. However, such approaches are not practical for underground pipelines and their deployment can be complicated for the case of pipelines covered by insulation. In this paper, we present an innovative, non-destructive testing technique, which exploits the backscatter of a combination of fast-neutron and γ radiation from steel samples of a variety of thicknesses consistent with changes that might arise due to corrosion of a pipe wall. Our research demonstrates the potential to measure and characterise different steel thicknesses by detecting both the elastic, fast-neutron backscatter and the Compton-scattered γ radiations, simultaneously. Further, we demonstrate that the presence of insulation yields a consistent and separable influence on the experimental, wall-thickness measurements. The data from experimental measurements are supported by a comprehensive Monte Carlo computer simulation study.

20.
Mol Genet Metab ; 129(2): 35-46, 2020 02.
Article in English | MEDLINE | ID: mdl-31761523

ABSTRACT

The discovery that patients with Gaucher Disease (GD), a rare lysosomal storage disorder, were developing symptoms similar to Parkinson's disease (PD) led to investigation of the relationship between the two seemingly unrelated pathologies. GD, an autosomal recessive disorder, is the result of a biallelic mutation in the gene GBA1, which encodes for the enzyme glucocerebrosidase (GCase). Since the observation of its relation to PD, GBA1 mutations have become recognized as the most common genetic risk factor for development of synucleinopathies such as PD and dementia with Lewy bodies. Although the exact mechanism by which GBA1 mutations promote PD is unknown, current understanding suggests that impaired GCase inhibits lysosomal activity and decreases the overall ability of the cell to degrade proteins, specifically the neuronal protein α-synuclein. Decreased elimination of α-synuclein can lead to its abnormal accumulation and aggregation, an important component of PD development. Further understanding of how decreased GCase activity increases risk for α-synuclein pathology can assist with the development of clinical biomarkers for early detection of synucleinopathies, as well as promote novel treatments tailored for people with a GBA1 mutation. Historically, α-synuclein has not been a reliable biomarker for PD. However, recent research on α-synuclein content within exosomes, which are small vesicles released by cells that carry specific cellular cargo, has yielded encouraging results. Moreover, decreased GCase activity has been shown to influence exosomal contents. Exosomes have emerged as a promising new avenue for the identification of novel biomarkers and therapeutic targets aimed at improving neuronal GCase function and limiting the development of synucleinopathies.


Subject(s)
Gaucher Disease/genetics , Glucosylceramidase/genetics , Mutation , Parkinson Disease/genetics , Synucleinopathies/genetics , alpha-Synuclein/genetics , Animals , Biomarkers/metabolism , Clinical Trials as Topic , Humans , Lysosomes/metabolism , Mice , Parkinson Disease/drug therapy , Synucleinopathies/drug therapy
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