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2021 ◽  
Author(s):  
Zi yu Gao ◽  
Zhan hao Chang ◽  
Tian Song ◽  
Dong fan Liu ◽  
Xin Li ◽  
...  

Abstract Fibromyalgia (FM) is a confounding factor for diagnosing and assessing rheumatic disease activity. This study sought to assess the extent of this syndrome in rheumatoid arthritis (RA) patients at our rheumatology department. The RA patients were divided into 2 groups (RA with FM and RA without FM) according to the score of the FiRST questionnaire and modified 2016 criteria for FM. We compared the clinical data and disease activities of RA patients with and without FM. As a result, RA patients with FM showed higher levels of CRP, ESR, DAS28-ESR compared with RA patients without FM in both FiRST questionnaires and questionnaires developed to diagnose FM(2016 criteria).Furthermore, RA patients with FM showed higher levels of IgA compared to without FM. For the blood cells count, RA patients with FM showed higher levels of white blood cells, platelets and lower levels of hemoglobin compared with RA patients without FM. Only by FiRST Questionnaires, RA patients with FM showed higher levels of RF compared to without FM. However, all groups showed a similar pattern in anti-CCP and IgG, IgM. RA patients with FM showed lower levels of vitamin D (VD) and higher levels of interleukin (IL)-6 compared with RA patients without FM.In conclusion,FM is a common feature in RA, more associated with high values of disease activity such as ESR, CRP and DAS28-ESR.


2021 ◽  
pp. 1-6
Author(s):  
Daniel Martín Fernández-Mayoralas ◽  
Jacobo Albert ◽  
Sara López-Martín ◽  
Mar Jiménez de la Peña ◽  
Ana Laura Fernández-Perrone ◽  
...  

Bi-allelic mutations in the <i>TUBGCP4</i> gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-old male patient with autism and a normal occipitofrontal circumference. No retinal abnormalities were observed. Brain MRI revealed the presence of enlarged sheaths of both tortuous optic nerves; both eyes had shorter axial lengths. Whole-exome sequencing in trio revealed synonymous <i>TUBGCP4</i> variants in homozygous state: c.1746G&#x3e;T; p.Leu582=. This synonymous variant has been previously described and probably leads to skipping of exon 16 of <i>TUBGCP4</i>. These results broaden the clinical spectrum of this new syndrome and suggest that <i>TUBGCP4</i> bi-allelic mutations may underlie complex neurodevelopmental disorders.


2021 ◽  
Vol 3 ◽  
Author(s):  
Oliver Haas ◽  
Andreas Maier ◽  
Eva Rothgang

HIV/AIDS is an ongoing global pandemic, with an estimated 39 million infected worldwide. Early detection is anticipated to help improve outcomes and prevent further infections. Point-of-care diagnostics make HIV/AIDS diagnoses available both earlier and to a broader population. Wide-spread and automated HIV risk estimation can offer objective guidance. This supports providers in making an informed decision when considering patients with high HIV risk for HIV testing or pre-exposure prophylaxis (PrEP). We propose a novel machine learning method that allows providers to use the data from a patient's previous stays at the clinic to estimate their HIV risk. All features available in the clinical data are considered, making the set of features objective and independent of expert opinions. The proposed method builds on association rules that are derived from the data. The incidence rate ratio (IRR) is determined for each rule. Given a new patient, the mean IRR of all applicable rules is used to estimate their HIV risk. The method was tested and validated on the publicly available clinical database MIMIC-IV, which consists of around 525,000 hospital stays that included a stay at the intensive care unit or emergency department. We evaluated the method using the area under the receiver operating characteristic curve (AUC). The best performance with an AUC of 0.88 was achieved with a model consisting of 53 rules. A threshold value of 0.66 leads to a sensitivity of 98% and a specificity of 53%. The rules were grouped into drug abuse, psychological illnesses (e.g., PTSD), previously known associations (e.g., pulmonary diseases), and new associations (e.g., certain diagnostic procedures). In conclusion, we propose a novel HIV risk estimation method that builds on existing clinical data. It incorporates a wide range of features, leading to a model that is independent of expert opinions. It supports providers in making informed decisions in the point-of-care diagnostics process by estimating a patient's HIV risk.


Smart Health ◽  
2021 ◽  
pp. 100238
Author(s):  
Md. Raihan Mia ◽  
Abu Sayed Md. Latiful Hoque ◽  
Shahidul Islam Khan ◽  
Sheikh Iqbal Ahamed

2021 ◽  
Vol 12 ◽  
Author(s):  
Alexander G. Raufi ◽  
Nicholas R. Liguori ◽  
Lindsey Carlsen ◽  
Cassandra Parker ◽  
Liz Hernandez Borrero ◽  
...  

Pancreatic ductal adenocarcinoma (PDAC) is an aggressive disease characterized by early metastasis, late detection, and poor prognosis. Progress towards effective therapy has been slow despite significant efforts. Novel treatment approaches are desperately needed and autophagy, an evolutionary conserved process through which proteins and organelles are recycled for use as alternative energy sources, may represent one such target. Although incompletely understood, there is growing evidence suggesting that autophagy may play a role in PDAC carcinogenesis, metastasis, and survival. Early clinical trials involving autophagy inhibiting agents, either alone or in combination with chemotherapy, have been disappointing. Recently, evidence has demonstrated synergy between the MAPK pathway and autophagy inhibitors in PDAC, suggesting a promising therapeutic intervention. In addition, novel agents, such as ONC212, have preclinical activity in pancreatic cancer, in part through autophagy inhibition. We discuss autophagy in PDAC tumorigenesis, metabolism, modulation of the immune response, and preclinical and clinical data with selected autophagy modulators as therapeutics.


2021 ◽  
pp. 112972982110609
Author(s):  
David Kingsmore ◽  
Andrew Jackson ◽  
Karen Stevenson

It is inevitable that complications arising from surgical procedures are ascribed to surgical technique, and this applies to venous stenosis (VS) in arteriovenous grafts. However, despite a wide range of cellular studies, computer modelling, observational series and clinical trials, there remains uncertainty on whether surgical technique contributes to VS. This article reviews evidence from basic science, fluid dynamics and clinical data to try and rationalise the main surgical options to modify the occurrence of venous stenosis. There is sufficient data from diverse sources to make recommendations on clinical practice (size of target vein, shape of anastomosis, angle of approach, distance from venous needling, trauma to the target vein) whilst at the same time this emphasises the need to carefully report the practical aspects of surgical technique in future clinical trials.


2021 ◽  
Vol 10 (23) ◽  
pp. 5655
Author(s):  
G. Dave Singh ◽  
Manarshhjot Singh

Virtual surgery planning is a non-invasive procedure, which uses digital clinical data for diagnostic, procedure selection and treatment planning purposes, including the forecast of potential outcomes. The technique begins with 3D data acquisition, using various methods, which may or may not utilize ionizing radiation, such as 3D stereophotogrammetry, 3D cone-beam CT scans, etc. Regardless of the imaging technique selected, landmark selection, whether it is manual or automated, is the key to transforming clinical data into objects that can be interrogated in virtual space. As a prerequisite, the data require alignment and correspondence such that pre- and post-operative configurations can be compared in real and statistical shape space. In addition, these data permit predictive modeling, using either model-based, data-based or hybrid modeling. These approaches provide perspectives for the development of customized surgical procedures and medical devices with accuracy, precision and intelligence. Therefore, this review briefly summarizes the current state of virtual surgery planning.


2021 ◽  
Vol 5 (2) ◽  
pp. 82-98
Author(s):  
Onur DİRİCAN ◽  
Pınar KAYGIN ◽  
Sezen YILMAZ SARIALTIN ◽  
Can YILMAZ ◽  
Volkan ATEŞ ◽  
...  

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