Anatomical Deformities Research Articles

Silicone phantoms fabricated with multi-material extrusion 3D printing technology mimicking imaging properties of soft tissues in CT

Recently, 3D printing has been widely used to fabricate medical imaging phantoms. So far, various rigid 3D printable materials have been investigated for their radiological properties and efficiency in imaging phantom fabrication. However, flexible, soft tissue materials are also needed for imaging phantoms for simulating several clinical scenarios where anatomical deformations is important. Recently, various additive manufacturing technologies have been used to produce anatomical models based on extrusion techniques that allow the fabrication of soft tissue materials. To date, there is no systematic study in the literature investigating the radiological properties of silicone rubber materials/fluids for imaging phantoms fabricated directly by extrusion using 3D printing techniques. The aim of this study was to investigate the radiological properties of 3D printed phantoms made of silicone in CT imaging. To achieve this goal, the radiodensity as described as Hounsfield Units (HUs) of several samples composed of three different silicone printing materials were evaluated by changing the infill density to adjust their radiological properties. A comparison of HU values with a Gammex Tissue Characterization Phantom was performed. In addition, a reproducibility analysis was performed by creating several replicas for specific infill densities. A scaled down anatomical model derived from an abdominal CT was also fabricated and the resulting HU values were evaluated. For the three different silicone materials, a spectrum ranging from −639 to +780 HU was obtained on CT at a scan setting of 120 kVp. In addition, using different infill densities, the printed materials were able to achieve a similar radiodensity range as obtained in different tissue-equivalent inserts in the Gammex phantom (238 HU to −673 HU). The reproducibility results showed good agreement between the HU values of the replicas compared to the original samples, confirming the reproducibility of the printed materials. A good agreement was observed between the HU target values in abdominal CT and the HU values of the 3D-printed anatomical phantom in all tissues.

A motion model-guided 4D dose reconstruction for pencil beam scanned proton therapy

Objective. 4D dose reconstruction in proton therapy with pencil beam scanning (PBS) typically relies on a single pre-treatment 4DCT (p4DCT). However, breathing motion during the fractionated treatment can vary considerably in both amplitude and frequency. We present a novel 4D dose reconstruction method combining delivery log files with patient-specific motion models, to account for the dosimetric effect of intra- and inter-fractional breathing variability. Approach. Correlation between an external breathing surrogate and anatomical deformations of the p4DCT is established using principal component analysis. Using motion trajectories of a surface marker acquired during the dose delivery by an optical tracking system, deformable motion fields are retrospectively reconstructed and used to generate time-resolved synthetic 4DCTs (‘5DCTs’) by warping a reference CT. For three abdominal/thoracic patients, treated with respiratory gating and rescanning, example fraction doses were reconstructed using the resulting 5DCTs and delivery log files. The motion model was validated beforehand using leave-one-out cross-validation (LOOCV) with subsequent 4D dose evaluations. Moreover, besides fractional motion, fractional anatomical changes were incorporated as proof of concept. Main results. For motion model validation, the comparison of 4D dose distributions for the original 4DCT and predicted LOOCV resulted in 3%/3 mm gamma pass rates above 96.2%. Prospective gating simulations on the p4DCT can overestimate the target dose coverage V95% by up to 2.1% compared to 4D dose reconstruction based on observed surrogate trajectories. Nevertheless, for the studied clinical cases treated with respiratory-gating and rescanning, an acceptable target coverage was maintained with V95% remaining above 98.8% for all studied fractions. For these gated treatments, larger dosimetric differences occurred due to CT changes than due to breathing variations. Significance. To gain a better estimate of the delivered dose, a retrospective 4D dose reconstruction workflow based on motion data acquired during PBS proton treatments was implemented and validated, thus considering both intra- and inter-fractional motion and anatomy changes.

Contour-guided deep learning based deformable image registration for dose monitoring during CBCT-guided radiotherapy of prostate cancer.

To evaluate deep learning (DL)-based deformable image registration (DIR) for dose accumulation during radiotherapy of prostate cancer patients. Data including 341 CBCTs (209 daily, 132 weekly) and 23 planning CTs from 23 patients was retrospectively analyzed. Anatomical deformation during treatment was estimated using free-form deformation (FFD) method from Elastix and DL-based VoxelMorph approaches. The VoxelMorph method was investigated using anatomical scans (VMorph_Sc) or label images (VMorph_Msk), or the combination of both (VMorph_Sc_Msk). Accumulated doses were compared with the planning dose. The DSC ranges, averaged for prostate, rectum and bladder, were 0.60-0.71, 0.67-0.79, 0.93-0.98, and 0.89-0.96 for the FFD, VMorph_Sc, VMorph_Msk, and VMorph_Sc_Msk methods, respectively. When including both anatomical and label images, VoxelMorph estimated more complex deformations resulting in heterogeneous determinant of Jacobian and higher percentage of deformation vector field (DVF) folding (up to a mean value of 1.90% in the prostate). Large differences were observed between DL-based methods regarding estimation of the accumulated dose, showing systematic overdosage and underdosage of the bladder and rectum, respectively. The difference between planned mean dose and accumulated mean dose with VMorph_Sc_Msk reached a median value of +6.3Gy for the bladder and -5.1Gy for the rectum. The estimation of the deformations using DL-based approach is feasible for male pelvic anatomy but requires the inclusion of anatomical contours to improve organ correspondence. High variability in the estimation of the accumulated dose depending on the deformable strategy suggests further investigation of DL-based techniques before clinical deployment.

PD-0248 Can surface imaging predict the impact of anatomical deformations on proton breast treatment?

PD-0248 Can surface imaging predict the impact of anatomical deformations on proton breast treatment?

Total Hip Arthroplasty in Patients with Crowe III/IV Developmental Dysplasia of the Hip: Acetabular Morphology and Reconstruction Techniques

The severe anatomic deformities render acetabular reconstruction as one of the greatest challenges in total hip arthroplasty (THA) for patients with Crowe III/IV developmental dysplasia of the hip (DDH). Thorough understanding of acetabular morphology and bone defect is the basis of acetabular reconstruction techniques. Researchers have proposed either true acetabulum position reconstruction or high hip center (HHC) position reconstruction. The former can obtain the optimal hip biomechanics, including bulk femoral head autograft, acetabular medial wall displacement osteotomy, and acetabular component medialization, while the latter is relatively easy for hip reduction, as it can avoid neurovascular lesions and obtain more bone coverage; however, it cannot achieve good hip biomechanics. Both techniques have their own advantages and disadvantages. Although there is no consensus on which approach is better, most researchers suggest the true acetabulum position reconstruction. Based on the various acetabular deformities in DDH patients, evaluation of acetabular morphology, bone defect, and bone stock using the 3D image and acetabular component simulation techniques, as well as the soft tissue tension around the hip joint, individualized acetabular reconstruction plans can be formulated and appropriate techniques can be selected to acquire desired clinical outcomes.

Probabilistic evaluation of plan quality for time-dependent anatomical deformations in head and neck cancer patients

PurposeIn addition to patient set-up uncertainties, anatomical deformations, e.g., weight loss, lead to time-dependent differences between the planned and delivered dose in a radiotherapy course that currently cannot easily be predicted. The aim of this study was to create time-varying prediction models to describe both the average and residual anatomical deformations. MethodsWeekly population-based principal component analysis models were generated from on-treatment cone-beam CT scans (CBCTs) of 30 head and neck cancer patients, with additional data of 35 patients used as a validation cohort. We simulated treatment courses accounting for a) anatomical deformations, b) set-up uncertainties and c) a combination of both. The dosimetric effects of the simulated deformations were compared to a direct dose accumulation based on deformable registration of the CBCT data. ResultsSet-up uncertainties were seen to have a larger effect on the organ at risk (OAR) doses than anatomical deformations for all OARs except the larynx and the primary CTV. Distributions from simulation results were in good agreement with those of the accumulated dose. ConclusionsWe present a novel method of modelling time-varying organ deformations in head and neck cancer. The effect on the OAR doses from these deformations are smaller than the effect of set-up uncertainties for most OARs. These models can, for instance, be used to predict which patients could benefit from adaptive radiotherapy, prior to commencing treatment.

Geometric impact and dose estimation of on-patient placement of a lightweight receiver coil in a clinical magnetic resonance imaging-only radiotherapy workflow for prostate cancer.

For pelvic magnetic resonance imaging (MRI)-only radiotherapy the use of receiver coil bridges (CB) is recommended to avoid deformation of the patient. Development in coil technology has enabled lightweight, flexible coils. In this work we evaluate the effects of a lightweight coil in a pelvic MRI-only radiotherapy workflow. Twenty-one patients, referred to prostate MRI-only radiotherapy, were included. Images were acquired with and without CB. Anatomical deformation from the on-patient coil placement was measured in the anterior-posterior (AP) and left-right (LR) direction. The change in signal-to-noise ratio (SNR) was measured in phantom and in vivo.The clinical treatment plan, created on the image with CB, was transferred and recalculated on the image without the CB. Dose metrics for the targets (planning- and clinical target volume) and organs at risks (OAR) were analyzed. There was a statistically significant increase in SNR in-vivo (median 21%, p=0.002) when removing the CB. Anatomical differences after removing the CB in patients were -1.5mm in AP (median change) and+2.5mm in LR direction. Dosimetric differences for the target structures were clinically negligible, but statistically significant. The difference in target mean doses were 0.2% (both p=0.004) of the prescribed dose. No dosimetric differences were observed for the OAR, except for the penile bulb. We concluded that anatomical change and dosimetric differences, originating from scanning without CB were minor. The CB can thereby be removed from the workflow, enabling easier patient positioning and increased SNR when using lightweight coils.

Autoimmune Diseases and Retina

Autoimmune diseases are a group of diseases that can result in organ-specific and/or systemic (systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis,...) anatomical deformation and loss of function as a result of the body's immune system attacking its own antigens under the influence of genetic and environmental factors. The eye is a potential target for complications related to autoimmunity, and depending on the severity of the immune response, vision-threatening problems can be observed. Immune complexes accumulate in and around the vessel walls as a result of humoral immunity, in which the autoantibody-related complement system is activated, and cellular immune response can lead to retinal vasculitis, vaso-occlusion, retinal hemorrhage, retinal ischemia, ischemic optic neuropathy, and inflammation of periorbital tissues. Therefore, the role of ophthalmologists in disease management is important in diagnosing, investigating, and treating ocular symptoms in a timely manner. Early diagnosis and treatment can play a critical role to decrease the risk of irreversible immunological damage to the retinal tissue. A multi-disciplinary approach for complete management and evaluation is needed in this disease group. This study aimed to provide a detailed review of the current clinical perspective for the diagnosis, workup, and treatment of autoimmune diseases with retinal manifestations. Systemic lupus erythematosus, Polyarteritis Nodosa, Dermatomyositis, Scleroderma, Wegener's Granulomatosis, Churg-Strauss Syndrome, Takayasu Arteritis, Susac Syndrome, and Nodular Panniculitis are discussed under this heading.

Surgical Outcomes of Endoscopic Versus Conventional Septoplasty.

The most common cause of nasal obstruction is a deviated nasal septum. It causes breathing difficulties and may eventually also cause sinusitis, epistaxis, sleep disturbances and snoring. The traditional surgeries of the nasal septum improve the nasal airway but do not fulfil the essential criteria in most instances. Endoscopic septoplasty is a fast-developing concept and gaining popularity as it provides a direct targeted approach to the septal anatomic deformity allowing a minimally invasive procedure under excellent visualization. The aim of this study is to compare the post-operative morbidity among conventional and endoscopic septoplasty. The present prospective study was conducted on 50 patients having deviated nasal septum. Patients were randomly divided into two groups of 25 each. Out of 50 patients, in 25 patients (Group A) Conventional septoplasty was done, whereas in other 25 patients (Group B) endoscopic septoplasty was done. The patients were followed up post-operatively at 2weeks, 4weeks and 8weeks. Study Design: comparative study. The mean of operating time (min) in Group A was 60.47 ± 8.16 which was significantly higher as compared to Group B (39.7 ± 6.73). (p value < .0001). The Mean of blood loss (mL) was significantly higher in Group A (88.67 ± 8.77) as compared to Group B. (54.6 ± 7.18). (p value < .0001). Post-operative NOSE score at one month was 7.33 ± 1.5 in group A which was significantly higher as compared to Group B (5 ± 1.41). (p value = 0.0007) whereas post-operative NOSE score at 3months in Group A was 6.53 ± 1.25 which was significantly higher as compared to Group B (4.4 ± 1.78). Proportion of post-operative complications was comparable in Group A and Group B (No complication 80% vs. 92% respectively). According to the present study, both the conventional and endoscopic septoplasty procedures were effective in relieving nasal obstruction in the patients. Endoscopic septoplasty showed significantly better result than conventional septoplasty in terms of time taken for surgery, blood loss during the surgery, post-operative complications and in terms of quality of life as assessed by NOSE Score.

Anatomical phenotype of obstructive sleep apnea patients based on cluster analysis.

To generate a novel subtype of obstructive sleep apnea (OSA) based on anatomical features and verify the differences in the response of different subtypes to orthodontic treatment, thus providing a theoretical reference for clinical decision-making. A K-means cluster analysis was performed for this retrospective serial study, which includes 722 OSA patients, aged 44.0 (36.0, 54.0) years, 80.2% male, with apnea-hypopnea index (AHI) of 23.2 (13.4, 39.6) events·h-1 , and body mass index (BMI) of 25.47 ± 3.00 kg·m-2 . All samples were divided into three subtypes based on AHI, BMI, and five variables of craniofacial measurements. Sixty-seven cases with mandibular advancement devices (MAD) therapeutic results were further applied to validate the efficacy and side effects of this treatment in different subtypes. Two hundred and thirty patients (31.9%) were characterized as cluster 1: AHI of 17.65 (11.80, 30.42) events·h-1 , BMI of 23.65 ± 2.62 kg·m-2 , with skeletal Class II high-angle shape. Cluster 2 included 278 patients (38.5%): AHI of 17.00 (11.00, 26.48) events·h-1 , BMI of 25.36 ± 2.53 kg·m-2 , soft palate length (SPL) of 39.25 mm (36.12, 42.20), with basically normal skeleton and normal airway size. Cluster 3, consisting of 214 patients (29.6%), exhibited a combination of anatomical deformity and obesity, with the highest AHI and BMI of 45.35 (30.42, 62.53) events·h-1 and 27.57 ± 2.59 kg·m-2 respectively, but less deformity degree than cluster 1. Cluster 2 had the highest response rate and relatively mild side effects with MAD. Orthodontic treatment based on anatomical morphology could exert a better effect on mild-moderate OSA patients with mild skeletal deformity.

Development of an abdominal dose accumulation tool and assessments of accumulated dose in gastrointestinal organs

Objective. Online adaptive radiotherapy has demonstrated improved dose conformality in response to inter-fraction geometric variations in the abdomen. The dosimetric impact of intra-fractional variations in anatomic configuration resulting from breathing, gastric contraction and slow configuration motion, however, have been largely ignored, leading to differences between delivered and planned. To investigate the impact of intra-fractional abdominal motions on delivered dose, anatomical deformations due to these three motion modes were extracted from dynamic MRI data using a previously developed hierarchical motion modeling methodology. Approach. Motion magnitudes were extracted from deformation fields between a reference state and all other motion states of the patient. Delivered dose estimates to various gastrointestinal organs (stomach, duodenum, small bowel and colon) were calculated on each motion state of the patient and accumulated to estimate the delivered dose to each organ for the entire treatment fraction. Main results. Across a sample of 10 patients, maximal motions of 33.6, 33.4, 47.6 and 49.2 mm were observed over 20 min for the stomach, duodenum, small bowel and colon respectively. Dose accumulation results showed that motions could lead to average increases of 2.0, 2.1, 1.1, 0.7 Gy to the maximum dose to 0.5cc (D0.5cc) and 3.0, 2.5, 1.3, 0.9 Gy to the maximum dose to 0.1cc (D0.1cc) for these organs at risk. From the 40 dose accumulations performed (10 for each organ at risk), 27 showed increases of modeled delivered dose compared to planned doses, 4 of which exceeded planned dose constraints. Significance. The use of intra-fraction motion measurements to accumulate delivered doses is feasible, and supports retrospective estimation of dose delivery to improve estimates of delivered doses, and further guide strategies for both plan adaptation as well as advances in intra-fraction motion management.

Cartilage-Sparing Otoplasty: A New Approach.

Ear protrusion is the primary indication for otoplasty. Many methods have been developed for addressing this defect, based on cartilage-scoring and excision and suture-fixation techniques. Disadvantages include irreversible distortion of the anatomy, irregularities, or overcorrection, or forward bulging of the conchal bowl. One of the most common long-term sequelae of otoplasty is an unsatisfactory result. A novel, cartilage-sparing, suture-based technique has been developed that aims to minimize the risk of complications and provide a natural-appearing aesthetic result. The method is based on two to three key sutures that shape the concha into the desired natural appearance while preventing a conchal bulge, which otherwise could appear if no cartilage is removed. Furthermore, these sutures support the neo-antihelix created by four further sutures anchored to the mastoid fascia, thus achieving the two main goals of otoplasty. The sparing of cartilaginous tissue means that the procedure is reversible if needed. In addition, permanent postoperative stigmata, pathologic scarring, and anatomical deformity can be avoided. This technique was used on 91 ears in 2020 and 2021, with only one ear (1.1%) requiring revision. Rates of complications or recurrence were low. The presented technique appears to be a rapid and safe method for treating the prominent ear deformity, providing aesthetically pleasing results.

RMSim: controlled respiratory motion simulation on static patient scans

Objective. This work aims to generate realistic anatomical deformations from static patient scans. Specifically, we present a method to generate these deformations/augmentations via deep learning driven respiratory motion simulation that provides the ground truth for validating deformable image registration (DIR) algorithms and driving more accurate deep learning based DIR. Approach. We present a novel 3D Seq2Seq deep learning respiratory motion simulator (RMSim) that learns from 4D-CT images and predicts future breathing phases given a static CT image. The predicted respiratory patterns, represented by time-varying displacement vector fields (DVFs) at different breathing phases, are modulated through auxiliary inputs of 1D breathing traces so that a larger amplitude in the trace results in more significant predicted deformation. Stacked 3D-ConvLSTMs are used to capture the spatial-temporal respiration patterns. Training loss includes a smoothness loss in the DVF and mean-squared error between the predicted and ground truth phase images. A spatial transformer deforms the static CT with the predicted DVF to generate the predicted phase image. 10-phase 4D-CTs of 140 internal patients were used to train and test RMSim. The trained RMSim was then used to augment a public DIR challenge dataset for training VoxelMorph to show the effectiveness of RMSim-generated deformation augmentation. Main results. We validated our RMSim output with both private and public benchmark datasets (healthy and cancer patients). The structure similarity index measure (SSIM) for predicted breathing phases and ground truth 4D CT images was 0.92 ± 0.04, demonstrating RMSim’s potential to generate realistic respiratory motion. Moreover, the landmark registration error in a public DIR dataset was improved from 8.12 ± 5.78 mm to 6.58mm ± 6.38 mm using RMSim-augmented training data. Significance. The proposed approach can be used for validating DIR algorithms as well as for patient-specific augmentations to improve deep learning DIR algorithms. The code, pretrained models, and augmented DIR validation datasets will be released at https://github.com/nadeemlab/SeqX2Y.

A Novel Classification for Diabetic Foot Ulcers of the First Ray.

Diabetic foot ulcers of the first ray result from several distinct biomechanical mechanisms related to anatomical deformities, which must be addressed if surgical offloading is contemplated. The objective of this study was to create a classification of the anatomical deformities of first-ray ulcers that could lead to better standardization of treatment and reporting. The authors performed a file review of patients with diabetic neuropathy diagnosed with first-ray ulcers over a period of 3 years in an outpatient setting. Anatomical deformities were diagnosed clinically and reported with ulcer location. The primary classification was the metatarsophalangeal joint, the interphalangeal joint, and the distal phalanx. Records for 59 patients (mean age, 62 years) with University of Texas A1 and A2 ulcers were reviewed. Mean ulcer duration was 2 months. The more common deformities were hallux valgus (41%), hallux valgus interphalangeus (14%), and hallux malleus (20%), and these were primarily associated with metatarsophalangeal, interphalangeal joint, and tip-of-toe ulcers, respectively (P < .0001). By classifying ulcer locations, the relevant corrective surgery may be chosen. Although some prophylactic procedures may be safe and effective, prophylactic hallux valgus correction in the diabetic foot requires further study.

Difficult airway management in congenital muscular torticollis using fiberoptic bronchoscope and early interventions to prevent anatomical deformity

Difficult airway management in congenital muscular torticollis using fiberoptic bronchoscope and early interventions to prevent anatomical deformity

Rhi3DGen: Analyzing Rhinophyma using 3D face models and synthetic data

Within the realm of medical diagnosis, deep learning techniques have revolutionized the way diseases are identified and studied. However, a persistent challenge has been data scarcity for many disease categories. One primary reason for this is issues related to patient privacy and copyright constraints on medical datasets. To address this, our research explores the use of synthetic data generation, focusing on Rhinophyma, a subclass of Rosacea. Our novel approach uses 3D parametric modeling to create synthetic images of Rhinophyma, addressing the data scarcity problem. Through this method, we generated 20,000 images representing 2000 distinct anatomical deformations of Rhinophyma. This research not only showcases the potential of using 3D parametric modeling for Rhinophyma but hints at its applicability for other diseases with anatomical abnormalities. With just 30 % of this synthetic dataset, we achieved a remarkable 95 % recall in classifying 220 real-world Rhinophyma images. The performance of our classification model is further validated using GradCAM visualisation. Our findings underscore the potential of such techniques to propel medical research and develop superior deep learning diagnostic models when only limited real-world images are available.

A probability model for anatomical robust optimisation in head and neck cancer proton therapy

Objective. Develop an anatomical model based on the statistics of the population data and evaluate the model for anatomical robust optimisation in head and neck cancer proton therapy. Approach. Deformable image registration was used to build the probability model (PM) that captured the major deformation from patient population data and quantified the probability of each deformation. A cohort of 20 nasopharynx patients was included in this retrospective study. Each patient had a planning CT and 6 weekly CTs during radiotherapy. We applied the model to 5 test patients. Each test patient used the remaining 19 training patients to build the PM and estimate the likelihood of a certain anatomical deformation to happen. For each test patient, a spot scanning proton plan was created. The PM was evaluated using proton spot location deviation and dose distribution. Main results. Using the proton spot range, the PM can simulate small non-rigid variations in the first treatment week within 0.21 ± 0.13 mm. For overall anatomical uncertainty prediction, the PM can reduce anatomical uncertainty from 4.47 ± 1.23 mm (no model) to 1.49 ± 1.08 mm at week 6. The 95% confidence interval (CI) of dose metric variations caused by actual anatomical deformations in the first week is −0.59% ∼ −0.31% for low-risk CT D 95, and 0.84–3.04 Gy for parotid D mean. On the other hand, the 95% CI of dose metric variations simulated by the PM at the first week is −0.52 ∼ −0.34% for low-risk CTV D 95, and 0.58 ∼ 2.22 Gy for parotid D mean. Significance. The PM improves the estimation accuracy of anatomical uncertainty compared to the previous models and does not depend on the acquisition of the weekly CTs during the treatment. We also provided a solution to quantify the probability of an anatomical deformation. The potential of the model for anatomical robust optimisation is discussed.

SELENBP1 overexpression in the prefrontal cortex underlies negative symptoms of schizophrenia

The selenium-binding protein 1 (SELENBP1) has been reported to be up-regulated in the prefrontal cortex (PFC) of schizophrenia patients in postmortem reports. However, no causative link between SELENBP1 and schizophrenia has yet been established. Here, we provide evidence linking the upregulation of SELENBP1 in the PFC of mice with the negative symptoms of schizophrenia. We verified the levels of SELENBP1 transcripts in postmortem PFC brain tissues from patients with schizophrenia and matched healthy controls. We also generated transgenic mice expressing human SELENBP1 (hSELENBP1 Tg) and examined their neuropathological features, intrinsic firing properties of PFC 2/3-layer pyramidal neurons, and frontal cortex (FC) electroencephalographic (EEG) responses to auditory stimuli. Schizophrenia-like behaviors in hSELENBP1 Tg mice and mice expressing Selenbp1 in the FC were assessed. SELENBP1 transcript levels were higher in the brains of patients with schizophrenia than in those of matched healthy controls. The hSELENBP1 Tg mice displayed negative endophenotype behaviors, including heterotopias- and ectopias-like anatomical deformities in upper-layer cortical neurons and social withdrawal, deficits in nesting, and anhedonia-like behavior. Additionally, hSELENBP1 Tg mice exhibited reduced excitabilities of PFC 2/3-layer pyramidal neurons and abnormalities in EEG biomarkers observed in schizophrenia. Furthermore, mice overexpressing Selenbp1 in FC showed deficits in sociability. These results suggest that upregulation of SELENBP1 in the PFC causes asociality, a negative symptom of schizophrenia.

A Retrospective Assessment of Thrombophilia in Pregnant Women with First and Second Trimester Pregnancy Loss

Recurrent Pregnancy Loss (RPL) affects between 1% to 5% of women of reproductive age. It is widely believed that RPL is a complex disorder that is influenced by chromosomal abnormalities, genetic mutations, uterine anatomic deformity, endocrine dysfunction, immunologic factors, infections, and the environment. Thrombotic disorders are a frequent cause of RPL, accounting for almost half of all cases; however, in the rest of the cases, the cause of RPL remains unclear. Therefore, in this study, it was planned to determine the genetic mutations involved in RPL during the first and second trimester of pregnancy. An observational retrospective cohort study was conducted in 2021, collecting data from 157 first trimester miscarriages and 54 s trimester pregnancies. All patients with a panel of laboratory and genetic analysis for thrombophilia were included for data analysis. It was observed that four factors were significantly more prevalent in one of the groups. Factor V Leiden (FVL) homozygosity and antiphospholipid syndrome (APS) antibodies were statistically significantly more common in pregnant women who suffered first trimester pregnancy losses. On the other hand, Protein C deficiency and Glycoprotein Ia polymorphism were statistically significantly more frequent in the second trimester group. The strongest independent risk factors for first trimester pregnancy loss were FVL and prothrombin (PT) compound mutations (OR = 3.11), followed by FVL homozygous mutation (OR = 3.66), and APS antibodies (OR = 4.47). Regarding second trimester pregnancy loss risk factors, the strongest were FVL and PT compound (OR = 3.24), followed by Glycoprotein Ia polymorphism (OR = 3.61), and respectively, APS antibodies (OR = 3.85). Numerous thrombophilic risk factors for early and late pregnancy loss have been found, including several mutations that seem to occur more often either during the first or the second trimester. Even though we are aware of risk-free and efficient diagnostics for thrombophilia abnormalities, no intervention has been proved to be clearly successful after the detection of these variables.

The search for systemic biomarkers for monitoring degenerative lumbar spinal disorders

ObjectivesIn our previous study, we reported that low back pain (LBP) severity and disability significantly correlate with body composition and several blood biochemical factors. Herein, we tested the hypothesis that these covariates are associated with anatomical deformations of the lumbar spine, in particular, radiographic facet joint osteoarthritis (FJOA) and lumbar disc degeneration (LDD) features important contributors to LBP. MethodsCT and MRI images of the lumbar spine were obtained from 200 individuals suffering from LBP-sciatica. We examined the FJOA and total LDD score - the sum of the scores of the three radiographic features (intervertebral disc herniation, osteophythosis and spondylolisthesis) at the L1 - S1 vertebral levels. By implementing a bioelectrical impedance analysis, we assessed the participants for body composition, specifically, extracellular water (ECW). Plasma levels of growth and differentiation factor 15 (GDF-15) and visceral adipose tissue-derived serine protease inhibitor (vaspin), were detected by ELISA. ResultsBy conducting a series of multivariable regression analyses, we report that the circulating levels of GDF-15, vaspin, and ECW are significantly and independently associated with FJOA scores [βGDF15 ​= ​0.38 ​± ​0.08, p ​= ​0.0001; βVASPIN ​= ​0.36 ​± ​0.07, p ​= ​0.000004; βECW ​= ​0.24 ​± ​0.07, p ​= ​0.002]. The levels of GDF-15 (β ​= ​0.30 ​± ​0.10, p ​= ​0.007) and ECW (β ​= ​0.20 ​± ​0.09, p ​= ​0.03) were also found significantly associated with the LDD scores. ConclusionThe obtained new data suggest that GDF-15, vaspin and ECW may serve as biomarkers for FJOA and LDD phenotypes.