scholarly journals Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions

2021 ◽  
pp. jnnp-2021-327247
Author(s):  
Jing Zhang ◽  
Min Chu ◽  
ZiChen Tian ◽  
KeXin Xie ◽  
Yue Cui ◽  
...  
Keyword(s):  
Risk Factor ◽  
Phenotypic Variation ◽  
Disease Duration ◽  
Clinical Symptoms ◽  
Asian Population ◽  
Fatal Familial Insomnia ◽  
Survival Duration ◽  
Genetic Profile ◽  
Genetic Characteristics ◽  
Geographical Regions

ObjectiveElucidate the core clinical and genetic characteristics and identify the phenotypic variation between different regions and genotypes of fatal familial insomnia (FFI).MethodsA worldwide large sample of FFI patients from our case series and literature review diagnosed by genetic testing were collected. The prevalence of clinical symptoms and genetic profile were obtained, and then the phenotypic comparison between Asians versus non-Asians and 129Met/Met versus 129Met/Val were conducted.ResultsIn total, 131 cases were identified. The age of onset was 47.51±12.53 (range 17–76) years, 106 patients died and disease duration was 13.20±9.04 (range 2–48) months. Insomnia (87.0%) and rapidly progressive dementia (RPD; 83.2%) occurred with the highest frequency. Hypertension (33.6%) was considered to be an objective indicator of autonomic dysfunction. Genotype frequency at codon 129 was Met/Met (84.7%) and Met/Val (15.3%), and allele frequency was Met (92.4%) and Val (7.6%).129 Met was a risk factor (OR: 3.728, 95% CI: 2.194 to 6.333, p=0.000) for FFI in the non-Asian population. Comparison of Asians and non-Asians revealed clinical symptoms and genetic background to show some differences (p<0.05). In the comparison of 129 polymorphisms, a longer disease duration was found in the 129 MV group, with alleviation of some clinical symptoms (p<0.05). After considering survival probability, significant differences in survival time between genotypes remained (p<0.0001).ConclusionsInsomnia, RPD and hypertension are representative key clinical presentations of FFI. Phenotypic variations in genotypes and geographic regions were documented. Prion protein gene 129 Met was considered to be a risk factor for FFI in the non-Asian population, and 129 polymorphisms could modify survival duration.

scholarly journals SAT0077 CARDIOVASCULAR RISK ASSESSMENT WITH CAROTID ULTRASONOGRAPHY IN ADDITION TO THE TRADITIONAL CARDIOVASCULAR RISK FACTORS IN RHEUMATOID ARTHRITIS PATIENTS: A CASE CONTROL STUDY

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 973-973
Author(s):  
R. Gonzalez Mazario ◽  
J. J. Fragio-Gil ◽  
P. Martinez Calabuig ◽  
E. Grau García ◽  
M. De la Rubia Navarro ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Risk Factors ◽  
Risk Factor ◽  
Cardiovascular Risk ◽  
Disease Duration ◽  
Case Control Study ◽  
Case Control ◽  
Healthy Controls ◽  
Carotid Ultrasonography ◽  
Control Study

Background:Cardiovascular disease (CV) is the most frequent cause of death in rheumatoid arthritis (RA) patients. It is well known that RA acts as an independent cardiovascular risk factor.Objectives:To assess the CV risk in RA patients using carotid ultrasonography (US) additionally to the traditional CV risk factors.Methods:A prospective transversal case control study was performed, including adult RA patients who fulfilled ACR/EULAR 2010 criteria and healthy controls matched according to CV risk factors. Population over 75 years old, patients with established CV disease and/or chronic kidney failure (from III stage) were excluded. The US evaluator was blinded to the case/control condition and evaluated the presence of plaques and the intima-media thickness. Statistical analysis was performed with R (3.6.1 version) and included a multivariate variance analysis (MANOVA) and a negative binomial regression adjusted by confounding factors (age, sex and CV risk factors).Results:A total of 200 cases and 111 healthy controls were included in the study. Demographical, clinical and US data are exposed in table 1. Not any difference was detected in terms of CV risk factors between the cases and controls. In both groups a relationship between age, BMI and high blood pressure was detected (p<0.001).Table 1.Table 2.RA basal characteristicsDisease duration (years)16,98 (11,38)Erosions (X-Ray of hands/feet)163 (81,5%)Seropositive (RF/anti-CCP)146 (73%)Extra-articular symptoms44 (22%)Intersticial difusse lung disease10 (5%)Rheumatoid nodules14 (7%)Prednisone use103 (51,5%)Median dose of Prednisone last year (mg)2,34 (2,84)sDMARDsMethotrexate104 (52%)Leflunomide29 (14,5%)Hydroxycloroquine9 (4,5%)bDMARDs89 (44,5%) TNFi41 (20,5%) Abatacept15 (7,5%) IL6i22 (11%) RTX11 (5,5%)JAKi26 (13%) Baricitinib11 (5,5%) Tofacitinib15 (7,5%)DAS 28-ESR3,1 (2,3, 3,9)SDAI7,85 (4,04, 13,41)HAQ0,88 (0,22, 1,5)RF (U/mL)51 (15, 164,25)Anti-CCP (U/mL)173 (22, 340)Patients showed higher intima-media (both right and left) thickness compared to controls (p<0.006). Moreover it was also related to the disease duration and DAS28 score (p<0.001). A higher plaque account was noted in cases(p<0.004) and it was also related to the disease duration (p<0.001).Conclusion:RA implies a higher CV risk. Traditional CV risk factors explains only partially the global risk. These findings support that RA acts as an independent cardiovascular risk factor.Disclosure of Interests:None declared

Genetic Alterations in Chinese Resected Lung Cancer with Invasive Mucinous Adenocarcinoma: Genomic Profiling and Prognostic Value Analysis

2021 ◽  
Author(s):  
James D. Klingensmith
Keyword(s):  
Mucinous Adenocarcinoma ◽  
Pi3k Pathway ◽  
Genetic Alterations ◽  
Egfr Mutations ◽  
Driver Mutations ◽  
Genetic Profile ◽  
Kras Mutations ◽  
Genetic Characteristics ◽  
Value Analysis ◽  
Invasive Mucinous Adenocarcinoma

Lung invasive mucinous adenocarcinoma (IMA) is a unique histological subtype with different clinical and pathological characteristics. Despite prior genomic investigations on lung IMA, little is known about the genetic features and prognosis-related biomarkers in Chinese surgically resected lung IMA. IMA showed a distinct genetic profile, with more diversified driver mutations and co-occurrence of tumor drivers/suppressors than non-IMA. From non-IMA to mixed-IMA to pure-IMA, the frequency of EGFR (72.0 percent vs. 40.0 percent vs. 23.1 percent, p=0.002) and ALK (undetected vs. 20.0 percent vs. 26.9%, p=0.015) changes exhibited a trend of steady decline and rise, respectively. KRAS mutations were more common in pure-IMA than in mixed-IMA, however the difference was statistically insignificant (23.1 percent vs. 4.0 percent, p=0.10). Pure-IMA had a lower rate of TP53 mutation than mixed-IMA and non-IMA (23.1 percent vs. 52.0 percent vs. 56.0 percent, p=0.03). Furthermore, IMA had fewer arm-level amplifications (p=0.04) and more arm-level deletions (p=0.004) than non-IMA, with a steady drop in amplification and rise in deletion frequency from non-IMA to mixed-IMA to pure-IMA, respectively. Patients with EGFR mutations (mDFS=30.3 vs. 16.0 months, HR=0.19, P=0.027) and PI3K pathway mutations (mDFS=36.0 vs. 16.0 months, HR=0.12, P=0.023) had longer DFS than patients with poorly differentiated tumors (mDFS=14.1 vs. 28.0 months, HR=3.75, p=0.037) or KRAS mutations (mDFS=13 KRAS mutations, PI3K pathway changes, and tumor differentiation status were all shown to be independent predictors with statistically significant effects on IMA patients' clinical outcomes in multivariate analysis. Our research shed light on the genomics of Chinese lung IMA that had been surgically removed. In IMA patients with stage III illness, we also discovered many genetic characteristics that might be used as indicators for postoperative recurrence.

MO765CENTRAL VEIN STENOSES IN HD PATIENTS

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Aleksei Zulkarnaev ◽  
Andrey Vatazin ◽  
Vadim Stepanov ◽  
Ekaterina Parshina ◽  
Mariya Novoseltseva
Keyword(s):  
Risk Factor ◽  
Vascular Access ◽  
Dwell Time ◽  
Clinical Symptoms ◽  
Clinical Signs ◽  
Cox Proportional Hazards ◽  
Important Risk Factor ◽  
Central Vein ◽  
Increased Risk ◽  
The Mean

Abstract Background and Aims The prevalence of central vein stenosis (CVS) in patients on hemodialysis (HD) is difficult to be assessed directly. This is mainly caused by the variety of clinical signs and the high frequency of asymptomatic CVS. Aim: to assess the frequency of occurrence of various CVS forms in HD patients. Method The retrospective observational study is based on the results of treatment of 1865 HD patients who underwent diagnostic and therapeutic procedures on vascular access in our center. In case of vascular access dysfunction, patients were examined according to a local protocol: ultrasound of the peripheral (to exclude lesion of peripheral AVF segments) and central veins (over the available length), followed with CT-angiography or percutaneous angiography, if necessary. Results AVF/AVG dysfunction was observed in 29.4% of patients (549 of 1865). 211 patients were diagnosed with CVS. The prevalence of CVS was 11.3% (211 of 1865) among all HD patients and 38.4% (211 of 549) in patients with AVF dysfunction. Among patients with CVS, 37% (78 of 211) had vein lesions without clinical symptoms or with minimal manifestations (a tendency to decrease KT/V). The prevalence of asymptomatic CVS was 4.2% (78 of 1865) in the general population of HD patients and 14.2% (78 of 549) in patients with AVF dysfunction. In case of asymptomatic CVS it was detected by an ultrasound examination during CVC implantation (N=38), during unsuccessful attempts to implant CVC (N=29), in the case of recurrent AVF thrombosis without underlying peripheral segments lesion (N=9) or during echocardiography (N=2). The prevalence of asymptomatic CVS among patients without AVF dysfunction was 5.9% (78 of 1316). True prevalence of subclinical CVS among HD patients without obvious signs of AVF dysfunction may vary widely. A total of 48.8% (103 of 211) of all CVS cases were treated. At the same time, in 10.7% (11 of 103) of cases, patients did not present symptoms of CVS, and surgery was performed due to recurrent AVF thrombosis without damage of the peripheral parts of AVF. Patients with clinically manifest CVS who received endovascular interventions had a significantly higher risk of AVF loss compared to patients with asymptomatic CVS: HR=2.566 [95% CI 1.706; 3.86], log rank p&lt;0.0001. However, patients with an asymptomatic CVS had a higher risk of AVF function loss compared to the general HD population (HR=2,051 [95% CI 1,243; 3,384], log rank p= 0.0004) – fig. 1. The use of CVC is a known risk factor of CVS development. We analyzed the relationship of CVS risk with multiply CVC placements and catheter dwell time using the Cox proportional hazards regression model (fig. 2). In the univariate model, a greater No of CVCs as well as longer time in place increased the risk of CVS. In the multivariate model (χ2=105.516, df=2, p&lt;0.0001), catheter dwell time was no longer associated with an increased risk of CVC, while the mean number of inserted catheters remained an important risk factor. Conclusion The prevalence of both symptomatic and asymptomatic forms of CVS in HD patients is high. Patients with vascular access dysfunction should be carefully examined to identify the asymptomatic CVS. The mean No of catheterizations is a more important risk factor of CVS than longer catheter dwell time.

scholarly journals Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy

Neurology ◽  
2018 ◽  
Vol 92 (4) ◽  
pp. e378-e385 ◽  
Author(s):  
Rianne J.M. Goselink ◽  
Karlien Mul ◽  
Caroline R. van Kernebeek ◽  
Richard J.L.F. Lemmers ◽  
Silvère M. van der Maarel ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Muscular Dystrophy ◽  
Disease Severity ◽  
Muscle Weakness ◽  
Early Onset ◽  
Disease Duration ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Work Status ◽  
Control Groups ◽  
Genetic Characteristics

ObjectiveTo assess the relation between age at onset and disease severity in facioscapulohumeral muscular dystrophy (FSHD).MethodsIn this prospective cross-sectional study, we matched adult patients with FSHD with an early disease onset with 2 sex-matched FSHD control groups with a classic onset; the first group was age matched, and the second group was disease duration matched. Genetic characteristics, muscle performance, respiratory functioning, hearing loss, vision loss, epilepsy, educational level, and work status were compared with the 2 control groups.ResultsTwenty-eight patients with early-onset FSHD were age (n = 28) or duration (n = 27) matched with classic-onset patients. Patients with early-onset FSHD had more severe muscle weakness (mean FSHD clinical score 11 vs 5 in the age-matched and 9 in the duration-matched group, p < 0.05) and a higher frequency of wheelchair dependency (57%, 0%, and 30%, respectively, p < 0.05). In addition, systemic features were more frequent in early-onset FSHD, most important, hearing loss, decreased respiratory function and spinal deformities. There was no difference in work status. Genetically, the shortest D4Z4 repeat arrays (2–3 units) were found exclusively in the early-onset group, and the largest repeat arrays (8–9 units) were found only in the classic-onset groups. De novo mutations were more frequent in early-onset patients (46% vs 4%).ConclusionsPatients with early-onset FSHD more often have severe muscle weakness and systemic features. The disease severity is greater than in patients with classic-onset FSHD who are matched for disease duration, suggesting that the progression is faster in early-onset patients.

scholarly journals Shared HLA Class II in Six Autoimmune Diseases in Latin America: A Meta-Analysis

2012 ◽  
Vol 2012 ◽  
pp. 1-10 ◽  
Author(s):  
Paola Cruz-Tapias ◽  
Oscar M. Pérez-Fernández ◽  
Adriana Rojas-Villarraga ◽  
Alberto Rodríguez-Rodríguez ◽  
María-Teresa Arango ◽  
...  
Keyword(s):  
Risk Factor ◽  
Autoimmune Diseases ◽  
Lupus Erythematosus ◽  
Meta Analysis ◽  
Human Leukocyte ◽  
Class Ii ◽  
Hla Class Ii ◽  
Genetic Characteristics ◽  
Latin Americans ◽  
Leukocyte Antigen

The prevalence and genetic susceptibility of autoimmune diseases (ADs) may vary depending on latitudinal gradient and ethnicity. The aims of this study were to identify common human leukocyte antigen (HLA) class II alleles that contribute to susceptibility to six ADs in Latin Americans through a meta-analysis and to review additional clinical, immunological, and genetic characteristics of those ADs sharing HLA alleles. DRB1∗03:01 (OR: 4.04; 95%CI: 1.41–11.53) was found to be a risk factor for systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), and type 1 diabetes mellitus (T1D). DRB1∗04:05 (OR: 4.64; 95%CI: 2.14–10.05) influences autoimmune hepatitis (AIH), rheumatoid arthritis (RA), and T1D; DRB1∗04:01 (OR: 3.86; 95%CI: 2.32–6.42) is a susceptibility factor for RA and T1D. Opposite associations were found between multiple sclerosis (MS) and T1D. DQB1∗06:02 and DRB1∗15 alleles were risk factors for MS but protective factors for T1D. Likewise, DQB1∗06:03 allele was a risk factor for AIH but a protective one for T1D. Several common autoantibodies and clinical associations as well as additional shared genes have been reported in these ADs, which are reviewed herein. These results indicate that in Latin Americans ADs share major loci and immune characteristics.

scholarly journals Bovine ephemeral fever epidemics in Kingdom Saudi Arabia: clinical, epidemiological and molecular investigation

2017 ◽  
Vol 11 (11) ◽  
pp. 854-860 ◽  
Author(s):  
Ahmed A Zaghawa ◽  
Fadhel Housawi ◽  
Abdulmohsen Al-Naeem ◽  
Ahmed Elsify ◽  
Yamen Mohammed Hegazy
Keyword(s):  
Saudi Arabia ◽  
Water Buffalo ◽  
Virus Isolation ◽  
Clinical Symptoms ◽  
Rt Pcr ◽  
Serum Samples ◽  
Bovine Ephemeral Fever ◽  
Geographical Regions ◽  
Epidemiological Pattern ◽  
First Time

Introduction: Bovine ephemeral fever virus (BEFV) is an arthropod borne Rhabdovirus affects cattle and water buffalo causes acute febrile disease. Methodology: The clinical picture and epidemiological pattern of BEF were described among cattle in epidemics of 2007, 2009 and 2011 in four geographical regions of Kingdom Saudi Arabia (Eastern, Jizan, Qasim, and Riyadh). Serum samples were tested using VNT. Virus isolation and molecular characterization were carried out for the first time in KSA. Results: The main clinical symptoms were fever, stiffness, lameness, salivation and subcutaneous emphysema. The prevalence and the mortality rate of BEF have decreased from 70% and 4.6% in 2007 to 30% and 0.6% in 2011, respectively in the 4 studied areas. There was no region association with higher prevalence of BEF. The intracluster correlation (ICC) was estimated for the first time in KSA as 0.0034. BEFV had been isolated from 11 out of 20 samples (55%) and isolation was confirmed by VNT. The molecular detection of BEFV by RT-PCR and real- time RT-qPCR were found more sensitive for diagnosis of the disease than virus isolation; 80% and 90% for the former tests and 55% for the latter. Three isolates were sequenced, they showed 84.7% - 100% identities in between and shared 90.4%-96.5% sequence identity with a previously published sequence from Australia (KF679404). The generated sequences belonged to 3rd cluster of BEFV glycoprotein. Conclusions: BEF occurrence has cyclic nature and the efficacy of vaccines prepared from local strains has to be evaluated and considered in diseases control.

scholarly journals Severity of Downgaze Palsy in the Context of Disease Duration Could Estimate Survival Duration in Patients With Progressive Supranuclear Palsy

2021 ◽  
Vol 12 ◽  
Author(s):  
Tao Xie ◽  
Carlen A. Yuen ◽  
Wenjun Kang ◽  
Mahesh Padmanaban ◽  
Timothy C. Hain ◽  
...  
Keyword(s):  
Progressive Supranuclear Palsy ◽  
Disease Duration ◽  
Cox Model ◽  
Brain Mri ◽  
Age At Onset ◽  
Unmet Need ◽  
Survival Duration ◽  
Total Survival ◽  
Predicting Factors ◽  
Clinical Counseling

It is an unmet need to estimate survival duration for patients with progressive supranuclear palsy (PSP). The objective of this study was to identify factors associated with the survival duration in patients with PSP. We followed up 23 patients with probable PSP-RS (Richardson syndrome) or PSP-P (parkinsonism) in our PSP center until death from 2011 to 2019. We prospectively and quantitatively rated their downgaze palsy whenever first noticed in our clinic. This was utilized along with the disease duration, motor function, medication use for parkinsonism, sex, age at onset of PSP, comorbid pulmonary and cardiovascular diseases, and the total survival duration from the onset of PSP to death for prediction analysis. A well-fitted linear regression model and a multivariant Cox model were applied to identify predicting factors for total survival duration. All patients had the specific hummingbird sign on brain MRI for PSP when downgaze palsy was documented. We found that the severity of downgaze palsy and the disease duration at the assessment were consistently correlated with the total survival duration in both models. The total survival duration could be further estimated by a formed regression equation. We conclude that severity and time to develop downgaze palsy could help to estimate the total survival duration in patients with probable PSP-RS and PSP-P, the major forms of PSP, which has significant clinical applications in clinical counseling and trial enrollment.

scholarly journals Effects of curcumin-piperine co-supplementation on clinical signs, duration, severity, and inflammatory factors in patients with COVID-19: a structured summary of a study protocol for a randomised controlled trial

Trials ◽  
2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Mahsa Miryan ◽  
Mohammad Bagherniya ◽  
Amirhossein Sahebkar ◽  
Davood Soleimani ◽  
Mohammad Hossein Rouhani ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Sample Size ◽  
Inflammatory Mediators ◽  
Disease Duration ◽  
Clinical Symptoms ◽  
Clinical Signs ◽  
Inflammatory Factors ◽  
Double Blind ◽  
Full Protocol ◽  
To Receive

Abstract Objectives This study aims to investigate the efficacy of curcumin-piperine co-supplementation on disease duration, severity and clinical symptoms, and inflammatory mediators in patients with coronavirus (COVID-19). Trial design This is a randomized, placebo-controlled, double-blind, parallel arm clinical trial. Participants All patients aged 20-75 years with the diagnosis of Covid-19 based on the PCR test. The exclusion criteria will include an age less than 20 and more than 75 years, current use of warfarin or other anticoagulant drugs, and the presence of sensitivity to herbal products such as turmeric and pepper. This study will be conducted in academic hospitals affiliated to Isfahan University of Medical Sciences, Isfahan, Iran. Intervention and comparator Fifty outpatients will be randomly allocated in a ratio of 1:1 to receive a capsule of curcumin-piperine containing 500 mg curcumin plus 5 mg piperine or matching placebo containing 505 mg maltodextrin twice a daily, after lunch and dinner, over a period of 2 weeks. Similarly, 50 inpatients who are admitted to hospital wards excluding intensive care unit (ICU) will be randomly assigned in a ratio of 1:1 to receive a capsule curcumin-piperine or matching placebo (provided by the Sami Labs company) twice a daily, after lunch and dinner, over a period of 2 weeks. Main outcomes The main outcomes of this study are the efficacy of curcumin-piperine on coronavirus disease’s clinical symptoms, duration, severity, and inflammatory mediators after 2 weeks of curcumin-piperine co-supplementation. Randomisation Randomization sequences will be generated with the use of a random-number table with a permuted block design (block size of 4) and stratification according to the gender variable (male vs. female). These sequences will be prepared by an independent statistician and will be kept in opaque, sealed, numbered envelopes which will be opened only at the time of enrollment. The allocation ratio in intervention and control groups is 1:1. Researchers and all patients will be unaware of the study-group assignment until the completion of data analyses. Blinding (masking) This study is a double-blind clinical trial (participant, researcher). The curcumin-piperine and placebo supplements are packaged in similar numbered drug containers, and the researcher and all patients will be unaware of the study assignment until the end of the study. Numbers to be randomised (sample size) The calculated total sample size is 100 patients, with 25 patients in each group. Trial Status The protocol is Version 2.0, May 24, 2020. Recruitment began May 4, 2020, and is anticipated to be completed by April 19, 2021. Trial registration This trial has been registered by the title of “Effect of curcumin-piperine co-supplementation on disease duration, severity and clinical signs, and inflammatory factors in patients with coronavirus (COVID-19): A randomized, double-blind, placebo-controlled clinical trial study” in the Iranian Registry of Clinical Trials (IRCT) with code “IRCT20121216011763N46”, https://www.irct.ir/trial/47529. The registration date is May 4, 2020. Full protocol The full protocol is attached as an additional file, accessible from the Trials website (Additional file 1). In the interest in expediting dissemination of this material, the familiar formatting has been eliminated; this Letter serves as a summary of the key elements of the full protocol.

scholarly journals Genetic Analysis of LRRK2 R1628P in Parkinson’s Disease in Asian Populations

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Yuan Zhang ◽  
Qiying Sun ◽  
Minhan Yi ◽  
Xun Zhou ◽  
Jifeng Guo ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Risk Factor ◽  
Chinese Population ◽  
Genetic Factors ◽  
Meta Analysis ◽  
Asian Population ◽  
High Quality ◽  
Asian Populations ◽  
Risk Variants

Although the etiology of Parkinson’s disease (PD) remains unclear, there is increasing evidence of genetic factors contributing to the onset of PD. Various mutations and risk variants of the gene LRRK2 have been reported, but the association between LRRK2 R1628P and PD is still inconsistent. Thus, we conducted a meta-analysis to determine the potential relationship between R1628P and PD. Our study sample was an aggregate of 17 publications, which in total consisted of 9,275 PD patients and 8,114 controls. All of these articles are of high quality according to NOS, and there was no obvious reporting bias or heterogeneity. In a general Asian population, the pooled OR of the risk genotype contrasts was 1.83 (95% CI: 1.57, 2.13). When stratified by ethnicity, the pooled ORs were 1.84 (95% CI: 1.56, 2.18) in a Chinese population and 1.79 (95% CI: 1.27, 2.52) in a non-Chinese population. Our study suggests that LRRK2 R1628P appears to be a risk factor for PD in Asian populations, both Chinese and non-Chinese.

scholarly journals Detection of perimacular red dots and blots when screening for diabetic retinopathy: Refer or not refer?

2018 ◽  
Vol 15 (4) ◽  
pp. 356-359 ◽  
Author(s):  
Anatolie Baltatescu ◽  
Elio Striglia ◽  
Marina Trento ◽  
Aurora Mazzeo ◽  
Franco Cavallo ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Diabetic Retinopathy ◽  
Risk Factor ◽  
Independent Risk Factor ◽  
Disease Duration ◽  
Multivariate Model ◽  
The Other ◽  
Haemoglobin A1c ◽  
Disc Diameter ◽  
Baseline Haemoglobin

Purpose: Detection of microaneurysms and/or microhaemorrhages near the fovea when screening for diabetic retinopathy poses a problem because referral to retinal specialists may alarm patients and unnecessarily burden ophthalmologists. Methods: Six-month prospective study of patients found to have minimal red lesions within one disc diameter of the fovea when screened for diabetic retinopathy. Two 45° digital photographs, one centred on the macula and the other nasal including the optic disc, were taken for each eye. All patients received a 6-month re-screening appointment. Results: Out of 70 patients, 41 returned for re-screening. Diabetic retinopathy had worsened in 3 who required referral but no treatment, was unchanged in 19 and was undetectable in the other 19. Haemoglobin A1c decreased from 7.76% ± 1.50% (61.3 ± 16.2 mmol/mol) to 6.93% ± 1.7% (52.3 ± 18.9 mmol/mol) in the patients in whom diabetic retinopathy worsened but did not change in the other groups. Baseline haemoglobin A1c ( p = 0.048) and systolic blood pressure ( p = 0.007) were lower in the patients in whom diabetic retinopathy improved, but a multivariate model including haemoglobin A1c, blood pressure and known disease duration could not identify any independent risk factor. Conclusion: Minimal red lesions near the fovea, though commanding early re-screening, do not require immediate referral to retinal specialists.

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