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NPJ Parkinson's Disease Jun 2024In Parkinson's disease (PD), GBA1- and LRRK2-mutations are associated with different clinical phenotypes which might be related to differential involvement of the...
In Parkinson's disease (PD), GBA1- and LRRK2-mutations are associated with different clinical phenotypes which might be related to differential involvement of the cholinergic system. We investigated cholinergic integrity in 149 asymptomatic GBA1 and 169 asymptomatic LRRK2 mutation carriers, 112 LRRK2 and 60 GBA1 carriers with PD, 492 idiopathic PD, and 180 controls from the PPMI cohort. Basal forebrain volumes were extracted and white matter pathways from nucleus basalis of Meynert (NBM) to cortex and from pedunculopontine nucleus (PPN) to thalamus were assessed with a free water-corrected DTI model. Bayesian ANCOVAs were conducted for group comparisons and Bayesian linear mixed models to assess associations with cognitive decline. Basal forebrain volumes were increased in asymptomatic GBA1 (Bayes Factor against the null hypothesis (BF) = 75.2) and asymptomatic LRRK2 (BF = 57.0) compared to controls. Basal forebrain volumes were increased in LRRK2- compared to GBA1-PD (BF = 14.5) and idiopathic PD (BF = 3.6*10), with no difference between idiopathic PD and PD-GBA1 (BF = 0.25). Mean diffusivity along the medial NBM pathway was decreased in asymptomatic GBA1 compared to controls (BF = 30.3). Over 5 years, idiopathic PD and PD-GBA1 declined across all cognitive domains whereas PD-LRRK2 patients only declined in processing speed. We found an interaction between basal forebrain volume and time in predicting multiple cognitive domains in idiopathic PD and PD-GBA1, but not in PD-LRRK2. While LRRK2 and GBA1 mutations are both associated with increased basal forebrain volume at asymptomatic stages, this increase persists at the symptomatic PD stage only in LRRK2 and might be related to slower cognitive decline in these patients.
PubMed: 38951174
DOI: 10.1038/s41531-024-00743-w -
EFORT Open Reviews Jul 2024Adolescent idiopathic scoliosis (AIS) is an abnormal coronal curvature of the spine that most commonly presents in adolescence. While it may be asymptomatic, AIS can... (Review)
Review
Adolescent idiopathic scoliosis (AIS) is an abnormal coronal curvature of the spine that most commonly presents in adolescence. While it may be asymptomatic, AIS can cause pain, cosmetic deformity, and physical and psychological disability with curve progression. As adolescents with AIS enter adulthood, condition outcomes vary with some experiencing curve stabilization and others noting further curve progression, chronic pain, osteoporosis/fractures, declines in pulmonary and functional capacity, among others. Regular monitoring and individualized management by healthcare professionals are crucial to address the diverse challenges and provide appropriate support for a fulfilling adult life with AIS. This review examines the prevalence, risk factors, presenting symptoms, diagnosis, management, and complications of AIS in the adult population, informing targeted interventions by clinicians caring for adult patients with AIS.
PubMed: 38949156
DOI: 10.1530/EOR-23-0162 -
Influenza and Other Respiratory Viruses Jul 2024Understanding the clinical spectrum of SARS-CoV-2 infection, including the asymptomatic fraction, is important as asymptomatic individuals are still able to infect other... (Meta-Analysis)
Meta-Analysis
Understanding the clinical spectrum of SARS-CoV-2 infection, including the asymptomatic fraction, is important as asymptomatic individuals are still able to infect other individuals and contribute to ongoing transmission. The WHO Unity Household transmission investigation (HHTI) protocol provides a platform for the prospective and systematic collection of high-quality clinical, epidemiological, serological and virological data from SARS-CoV-2 confirmed cases and their household contacts. These data can be used to understand key severity and transmissibility parameters-including the asymptomatic proportion-in relation to local epidemic context and help inform public health response. We aimed to estimate the asymptomatic proportion of SARS-CoV-2 Omicron variant infections in Unity-aligned HHTIs. We conducted a systematic review and meta-analysis in alignment with the PRISMA 2020 guidelines and registered our systematic review on PROSPERO (CRD42022378648). We searched EMBASE, Web of Science, MEDLINE and bioRxiv and medRxiv from 1 November 2021 to 22 August 2023. We identified 8368 records, of which 98 underwent full text review. We identified only three studies for data extraction, with substantial variation in study design and corresponding estimates of the asymptomatic proportion. As a result, we did not generate a pooled estimate or I metric. The limited number of quality studies that we identified highlights the need for improved preparedness and response capabilities to facilitate robust HHTI implementation, analysis and reporting, to better inform national, regional and global risk assessments and policymaking.
Topics: Humans; Asymptomatic Infections; COVID-19; Family Characteristics; SARS-CoV-2
PubMed: 38949103
DOI: 10.1111/irv.13348 -
BioRxiv : the Preprint Server For... Jun 2024Cirrhosis, advanced liver disease, affects 2-5 million Americans. While most patients have compensated cirrhosis and may be fairly asymptomatic, many decompensate and...
UNLABELLED
Cirrhosis, advanced liver disease, affects 2-5 million Americans. While most patients have compensated cirrhosis and may be fairly asymptomatic, many decompensate and experience life-threatening complications such as gastrointestinal bleeding, confusion (hepatic encephalopathy), and ascites, reducing life expectancy from 12 to less than 2 years. Among patients with compensated cirrhosis, identifying patients at high risk of decompensation is critical to optimize care and reduce morbidity and mortality. Therefore, it is important to preferentially direct them towards specialty care which cannot be provided to all patients with cirrhosis. We used discovery Top-down Proteomics (TDP) to identify differentially expressed proteoforms (DEPs) in the plasma of patients with progressive stages of liver cirrhosis with the ultimate goal to identify candidate biomarkers of disease progression. In this pilot study, we identified 209 DEPs across three stages of cirrhosis (compensated, compensated with portal hypertension, and decompensated), of which 115 derived from proteins enriched in the liver at a transcriptional level and discriminated the three stages of cirrhosis. Enrichment analyses demonstrated DEPs are involved in several metabolic and immunological processes known to be impacted by cirrhosis progression. We have preliminarily defined the plasma proteoform signatures of cirrhosis patients, setting the stage for ongoing discovery and validation of biomarkers for early diagnosis, risk stratification, and disease monitoring.
HIGHLIGHTS
Performed a pilot top-down LC-MS/MS analysis to identify proteoforms (PFRs) in the plasma of patients with 3 progressive stages of liver cirrhosis.Identified 2867 proteoforms (PFRs) and 209 differentially regulated proteoforms (DRPs) in the different stages of the disease.Identified DRP profiles able to potentially distinguish early from late stages of the disease, including 115 liver-derived DRPs.Fibrinogen alpha chain, haptoglobin, and Apo A-I are the proteins with the highest number of DRPs and represent potential candidate biomarkers of liver cirrhosis progression.
PubMed: 38948836
DOI: 10.1101/2024.06.19.599662 -
Journal of Family Medicine and Primary... May 2024The coronavirus disease 2019 (COVID-19) is a viral infection characterized by respiratory and gastrointestinal symptoms. The causative agent of this infection is the...
INTRODUCTION
The coronavirus disease 2019 (COVID-19) is a viral infection characterized by respiratory and gastrointestinal symptoms. The causative agent of this infection is the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The genomic study helps in understanding the pathogenesis, epidemiology, and the development of therapeutic and preventive strategies in the combat against COVID-19.
MATERIALS AND METHODS
Nasopharyngeal and oropharyngeal swab samples were collected from asymptomatic and symptomatic patients during the time period of 2021-2022 for the detection of SARS-CoV-2 by employing real-time reverse transcriptase, cDNA synthesis, whole-genome sequencing by next-genome sequencing, analysis of SARS-CoV-2 sequence data and lineage and variant of concern assignment along with phylogenetic analysis.
RESULTS
Lineages BA.2.10 and BA.4.1.1 clustered with genomes from Senegal suggested the spread of infections. Similarly, high clustering among delta samples during the second wave showed possible importation and subsequent spread via local transmission.
CONCLUSIONS
Studies like these are important to understand the characteristics and origins of locally circulating SARS-CoV-2 diversity in order to prevent further spread.
PubMed: 38948575
DOI: 10.4103/jfmpc.jfmpc_1698_23 -
PeerJ 2024The methods previously proposed in the literature to assess patients with rotator cuff related shoulder pain, based on special orthopedic tests to precisely identify the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The methods previously proposed in the literature to assess patients with rotator cuff related shoulder pain, based on special orthopedic tests to precisely identify the structure causing the shoulder symptoms have been recently challenged. This opens the possibility of a different way of physical examination.
OBJECTIVE
To analyze the differences in shoulder range of motion, strength and thoracic kyphosis between rotator cuff related shoulder pain patients and an asymptomatic group.
METHOD
The protocol of the present research was registered in the International Prospective Register of Systematic Review (PROSPERO) (registration number CRD42021258924). Database search of observational studies was conducted in MEDLINE, EMBASE, WOS and CINHAL until July 2023, which assessed shoulder or neck neuro-musculoskeletal non-invasive physical examination compared to an asymptomatic group. Two investigators assessed eligibility and study quality. The Newcastle Ottawa Scale was used to evaluate the methodology quality.
RESULTS
Eight studies ( = 604) were selected for the quantitative analysis. Meta-analysis showed statistical differences with large effect for shoulder flexion (I2 = 91.7%, < 0.01, HG = -1.30), external rotation (I2 = 83.2%, < 0.01, HG = -1.16) and internal rotation range of motion (I2 = 0%, < 0.01, HG = -1.32). Regarding to shoulder strength; only internal rotation strength showed statistical differences with small effect (I2 = 42.8%, < 0.05, HG = -0.3).
CONCLUSIONS
There is moderate to strong evidence that patients with rotator cuff related shoulder pain present less shoulder flexion, internal and external rotation range of motion and less internal rotation strength than asymptomatic individuals.
Topics: Humans; Range of Motion, Articular; Shoulder Pain; Rotator Cuff; Muscle Strength; Rotator Cuff Injuries; Shoulder Joint; Kyphosis
PubMed: 38948223
DOI: 10.7717/peerj.17604 -
PeerJ 2024Type 2 diabetes mellitus (T2DM) is a prevalent metabolic disorder with systemic implications, potentially affecting musculoskeletal health. This study aimed to assess...
BACKGROUND
Type 2 diabetes mellitus (T2DM) is a prevalent metabolic disorder with systemic implications, potentially affecting musculoskeletal health. This study aimed to assess shoulder muscle strength and joint repositioning accuracy in individuals with T2DM, exploring potential correlations and shedding light on the musculoskeletal consequences of the condition. The objectives were two-fold: (1) to assess and compare shoulder strength and joint repositioning accuracy between individuals with T2DM and asymptomatic counterparts, and (2) to examine the correlation between shoulder strength and joint repositioning accuracy in individuals with T2DM.
METHODS
A cross-sectional study enrolled 172 participants using the convenience sampling method, including 86 individuals with T2DM and an age-matched asymptomatic group ( = 86). Shoulder strength was assessed using a handheld dynamometer, while joint repositioning accuracy was evaluated with an electronic digital inclinometer.
RESULTS
Individuals with T2DM exhibited reduced shoulder muscle strength compared to asymptomatic individuals ( < 0.001). Additionally, joint repositioning accuracy was significantly lower in the T2DM group ( < 0.001). Negative correlations were observed between shoulder strength and joint repositioning accuracy in various directions (ranging from -0.29 to -0.46, < 0.001), indicating that higher muscle strength was associated with improved joint repositioning accuracy in individuals with T2DM.
CONCLUSION
This study highlights the significant impact of T2DM on shoulder muscle strength and joint repositioning accuracy. Reduced strength and impaired accuracy are evident in individuals with T2DM, emphasizing the importance of addressing musculoskeletal aspects in diabetes management. The negative correlations suggest that enhancing shoulder muscle strength may lead to improved joint repositioning accuracy, potentially contributing to enhanced physical functioning in this population.
Topics: Humans; Diabetes Mellitus, Type 2; Male; Cross-Sectional Studies; Female; Middle Aged; Muscle Weakness; Muscle Strength; Shoulder; Proprioception; Shoulder Joint; Aged; Adult; Range of Motion, Articular
PubMed: 38948217
DOI: 10.7717/peerj.17630 -
Endoscopic Ultrasound 2024Pancreatic cancer (PC) is the third cause of cancer-related deaths. Early detection and interception of premalignant pancreatic lesions represent a promising strategy to...
BACKGROUND AND OBJECTIVES
Pancreatic cancer (PC) is the third cause of cancer-related deaths. Early detection and interception of premalignant pancreatic lesions represent a promising strategy to improve outcomes. We evaluated risk factors of focal pancreatic lesions (FPLs) in asymptomatic individuals at hereditary high risk for PC.
METHODS
This is an observational single-institution cohort study conducted over a period of 5 years. Surveillance was performed through imaging studies (EUS or magnetic resonance imaging/magnetic resonance cholangiopancreatography) and serum biomarkers. We collected demographic characteristics and used univariate and multivariate logistic regression models to evaluate associations between potential risk factors and odd ratios (ORs) for FPL development.
RESULTS
A total of 205 patients completed baseline screening. Patients were followed up to 53 months. We detected FPL in 37 patients (18%) at baseline; 2 patients had lesions progression during follow-up period, 1 of them to PC. Furthermore, 13 patients developed new FPLs during the follow-up period. Univariate and multivariate analyses revealed that new-onset diabetes (NOD) is strongly associated with the presence of FPL (OR, 10.94 [95% confidence interval, 3.01-51.79; < 0.001]; OR, 9.98 [95% confidence interval, 2.15-46.33; = 0.003]). Follow-up data analysis revealed that NOD is also predictive of lesions progression or development of new lesions during screening (26.7% 2.6%; = 0.005).
CONCLUSIONS
In a PC high-risk cohort, NOD is significantly associated with presence of FPL at baseline and predictive of lesions progression or new lesions during surveillance.
PubMed: 38947744
DOI: 10.1097/eus.0000000000000057 -
The Management of an Unusual Combination of Anomalies Following Primary Tooth Trauma: A Case Report.Cureus May 2024The prognosis of luxation injuries of primary teeth is often unpredictable. A two-year-old girl presented with a displaced left primary maxillary anterior tooth...
The prognosis of luxation injuries of primary teeth is often unpredictable. A two-year-old girl presented with a displaced left primary maxillary anterior tooth diagnosed as severe intrusive luxation. On radiographic examination, it was noticed to be impinging on the underlying permanent tooth bud. The tooth was extracted, and periodic follow-ups were emphasized until the successor tooth erupted. However, after eight years, the patient followed up with a chief complaint of an unerupted permanent maxillary anterior tooth. Cone-beam computed tomography (CBCT) revealed a combination of anomalies in the crown and root of the maxillary anterior tooth. After a wait-and-observe regime for six months, the incisal third of the crown erupted. At eight years and eight months, the tooth developed a periapical abscess which was treated endodontically and restored. At nine years and three months, the tooth is asymptomatic till date. The present case report highlights the consequences of intrusive luxation injuries to the primary teeth and the need for a multidisciplinary team approach in the management of complications of dental trauma along with meticulous long-term follow-ups.
PubMed: 38947703
DOI: 10.7759/cureus.61402 -
Cureus May 2024Background The cerebellopontine angle (CPA) cistern houses vital neurovascular structures such as cranial nerves V, VII, and VIII and the anterior inferior cerebellar...
Prevalence of Anterior Inferior Cerebellar Artery Vascular Loop in Cerebellopontine Angle With Three-Dimensional Constructive Interference in Steady State (CISS) Sequence MRI.
Background The cerebellopontine angle (CPA) cistern houses vital neurovascular structures such as cranial nerves V, VII, and VIII and the anterior inferior cerebellar artery (AICA), often leading to neurovascular compression syndromes due to its complex anatomy. Although vascular compression is a recognized cause of certain neuralgias, its association with otologic symptoms such as tinnitus, hearing loss, and dizziness remains uncertain. Hence, this study aims to determine the prevalence of the AICA vascular loop in the CPA cistern on MRI in patients with asymptomatic audiovestibular symptoms. Methodology Adult patients who underwent MRI, including the posterior fossa's high-resolution volumetric T2 sequence (three-dimensional constructive interference in steady state (3D-CISS)), were assessed. Patients with a history of audiovestibular symptoms (tinnitus/dizziness/vertigo/sensorineural hearing loss), intracranial tumor, vascular lesions, intracranial surgery, brain radiation therapy, traumatic brain injury, poor image quality, and MRI scans without 3D-CISS sequences were excluded. Two radiologists independently reviewed 114 (228 sides) MRI studies for the vascular loop of AICA in the CPA cistern and the extension of the AICA loop into the ipsilateral internal acoustic meatus which was graded by Chavda's classification. Results The prevalence of vascular loop of AICA in the CPA cistern was as high as 47.6% in asymptomatic patients. Grade I Chavda vascular loop was the most common type followed by type II, with type III being the least common type. Conclusions Knowledge regarding the high prevalence of the AICA loop in the asymptomatic population and the lack of significant correlation between the presence of the AICA loop and otovestibular symptoms should be considered in preoperative planning for decompression procedures.
PubMed: 38947685
DOI: 10.7759/cureus.61393