cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.23283119
title: Supplementary Material for: Inner Retinal Thickness and Vasculature in Patients with Reticular Pseudodrusen

description: Introduction: To investigate retinal layer thickness and vessel density differences between patients with reticular pseudodrusen (RPD) and intermediate dry age-related macular degeneration (iAMD). Methods: Participants included in the study were patients diagnosed by retinal specialists with RPD, iAMD, and both RPD and iAMD at our academic referral center, seen from May 2021 until February 2022. The central 3 mm retinal thickness was measured using spectral-domain optical coherence tomography (SD-OCT) (Heidelberg Spectralis HRA+OCT System; Heidelberg Engineering, Heidelberg, Germany). Individual retinal thickness measurements were obtained from the innermost layer (nerve fiber layer) until the outermost layer (retinal pigment epithelium). Each thickness measurement was subdivided into nine Early Treatment Diabetic Retinopathy Study (ETDRS) sectors. For the vessel density, OCT angiography (OCTA) from the Heidelberg Spectralis system was measured using a proprietary third-party software (AngioTool; National Institutes of Health, National Cancer Institute, Bethesda, MD). Clinical and demographic characteristics were compared across the three groups (iAMD, RPD, iAMD and RPD) and analyzed with necessary adjustments. Linear Mixed-Effects models with necessary corrections were employed to compare continuous eye-level measurements between our three groups as well as in pairwise fashion using the R statistical programming software (R version 4.2.1). Results: A total of 25 eyes of 17 patients with RPD, 20 eyes of 15 patients with iAMD, and 14 eyes of 9 patients with both iAMD & RPD were analyzed. Retinal thickness analysis identified that the superior inner (p = 0.028) and superior outer (p = 0.027) macula of eyes with both iAMD & RPD were significantly thinner than those with iAMD alone. In eyes with RPD, the superior inner and superior outer RPE (p = 0.011 and p = 0.05, respectively), OPL (p = 0.003 and p = 0.013, respectively), and INL (p = 0.034 and p = 0, respectively) were noted to be thinner compared to eyes with iAMD alone. In addition, the macular deep capillary plexus vessel density was significantly reduced in eyes with RPD compared to eyes with iAMD (p = 0.017). Discussion/Conclusion: Patients with RPD had inner retinal structural as well as vascular changes compared to iAMD patients. Inner retinal vascular attenuation should be investigated further to see if there is a causal association with retinal thinning.
DOI: 10.6084/m9.figshare.23506875
title: Supplementary Material for: EZH2 Expression in Retinoblastoma: a Potential Therapeutic Target

description: Introduction: The enhancer of zeste homolog 2 (EZH2) is a member of the polycomb repressive complex 2 (PRC2) and is important in cell cycle regulation. Increased expression of EZH2 has been reported in retinoblastoma (RB). The aim of the study was to determine EZH2 expression and compare this with clinicopathological parameters in RB and to assess its relationship with tumor cell proliferation. Methods: Ninety-nine retrospective cases of enucleated RB were included in the present study. Expression of EZH2 and the marker of cell proliferation, Ki67, were investigated by immunohistochemistry. Results: Among the 99 cases of retinoblastoma in this study, EZH2 was found highly expressed (positive expression rate≥70%) in 92 cases. EZH2 was expressed in tumor cells but absent in normal retinal tissues. The expression of EZH2 was positively linked to Ki67 expression (r=0.65, P&lt;0.001). Discussion/Conclusion: Elevated EZH2 expression was found in most RB cases, indicating that EZH2 could be a potential therapeutic target for RB.
DOI: 10.5517/cc1j6klw
title: CCDC 1406488: Experimental Crystal Structure Determination

description: Related Article: Peter G. Jones, Seref Yildizhan, Henning Hopf|2015|CSD Communication|||
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.6084/m9.figshare.21815499
title: Supplementary Material for: Flank Pain as a First Symptom of a Diffuse Midline Glioma

description: Diffuse midline gliomas are a new entity in the WHO Classification of Tumors of the Central Nervous System, corresponding to grade 4 gliomas. The diagnostic pathognomonic feature is the presence of a H3K27M mutation. Although mainly seen in children, cases in adults have also been reported. The symptoms are highly variable and usually dependent on the location and extent of spinal cord compression.
DOI: 10.6084/m9.figshare.21915384
title: Supplementary Material for: Polygenic contributions to suicidal thoughts and behaviors in a sample ascertained for alcohol use disorders

description: Introduction: Suicidal thoughts and behaviors have partially distinct genetic etiologies. Methods: We used PRS-CS to create polygenic risk scores (PRS) from GWAS of non-suicidal self-injury, broad sense self-harm ideation, non-fatal suicide attempt, death by suicide, and depression. Using mixed-effect models, we estimated whether these PRS were associated with a range of suicidal thoughts and behaviors in the Collaborative Study on the Genetics of Alcoholism (N = 7,526). Results: All PRS were significantly associated with suicidal ideation and suicide attempt (betas=0.08-0.44, FDR&lt;0.023). All PRS except non-suicidal self-injury PRS were associated with active suicidal ideation (betas=0.14-0.22, FDR&lt;0.003). Several associations remained significant in models where all significant PRS were included as simultaneous predictors, and when all PRS predicted suicide attempt, the PRS together explained 6.2% of the variance in suicide attempt. Significant associations were also observed between some PRS and persistent suicidal ideation, non-suicidal self-injury, compounded suicide attempt and desire to die. Conclusion: Our findings suggest that PRS for depression does not explain the entirety of the variance in suicidal thoughts and behaviors, with PRS specifically for suicidal thoughts and behaviors making additional and sometimes unique contributions.
DOI: 10.6084/m9.figshare.21975737
title: Supplementary Material for: COVID-19 Associated Cerebrovascular Events: A Case Series and Review of Possible Mechanisms

description: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) affects multiple body systems, including the nervous system. Cerebrovascular accidents can also occur. Patients with comorbid illnesses have severe manifestations and poor outcomes. Despite the proper mechanism of SARS-CoV-2 infection-associated stroke having not yet been settled, various possible mechanisms have been hypothesized. One possibility is that the virus causes endothelial dysfunction and immune-mediated injury. Another possibility is that the trans-neuronal spread of the virus affects brain tissue. In addition, hypercoagulability caused by SARS-CoV-2 infection could lead to a stroke. A virus-induced dysfunction of the renin-angiotensin system could also lead to a stroke. The immune response and vasculitis resulting from SARS-CoV-2 infection are also possible causes via a cytokine storm, immune dysfunction, and various inflammatory responses. SARS-CoV-2 infection may affect calcitonin gene-related peptides and cerebral blood flow and may lead to stroke. Finally, SARS-CoV-2 may cause hemorrhagic strokes via mechanisms stimulated by its interaction with angiotensin-converting enzyme 2 (ACE2), leading to arterial wall damage and blood pressure changes. In this article, we will present seven cases of stroke-associated SARS-CoV-2 infection.
DOI: 10.6084/m9.figshare.21981260
title: Supplementary Material for: Small Fiber Neuropathy Triggered by COVID-19 Vaccination: Association with FGFR3 Autoantibodies and Improvement during Intravenous Immunoglobulin Treatment

description: Multiple case series have demonstrated the emergence of small fiber neuropathy following acute coronavirus disease 2019 (COVID-19) infections. Further, one large case supports that the COVID-19 vaccine has been reported to result in small fiber neuropathy. We report a case of a patient with confirmed small fiber neuropathy post-COVID-19 vaccination with positive FGFR3 antibodies. The effect of intravenous immunoglobulin (IVIG) has been recently explored for treatment of presumed autoimmune small fiber neuropathy. To our knowledge, this is the first published case report of COVID vaccination-induced FGFR3-associated small fiber neuropathy improving in the context of IVIG administration as demonstrated by normalization of small fiber density measured by skin biopsy accompanied by marked improvement in the patient’s symptoms.
DOI: 10.6084/m9.figshare.21988445
title: Supplementary Material for: High-grade prostate cancer invading the vagina: a case report of an unusual prostate cancer diagnosed in a man with persistent Mullerian duct syndrome

description: We report an extremely rare case of locally-advanced prostate cancer in a phenotypic male patient with persistent müllerian duct syndrome. The patient underwent a robot-assisted retzius-sparing radical prostatectomy, bilateral pelvic lymph node dissection, radical hysterectomy, vaginectomy and salpingo-ophorectomy. He was continent at 3 months followup. His follow-up was 1.4 ng/ml and his PSMA-PET scan showed bone metastasis with no local recurrence, and he was started on androgen deprivation therapy along with Docetaxel chemotherapy.
DOI: 10.6084/m9.figshare.21989282
title: Supplementary Material for: Copper Deficiency Mimicking Myelodysplastic Syndrome: Zinc Supplementation in the Setting of COVID-19

description: While copper deficiency is rare, it can have serious consequences, including pancytopenia and neuropathy. This treatable vitamin deficiency can present very similarly to myelodysplastic syndrome (MDS), a group of myeloid neoplasms which can carry devastating prognoses. Copper deficiency is an essential differential diagnosis in suspected MDS, as it can present with similar laboratory findings, bone marrow biopsy, and clinical picture. While copper deficiency has multiple potential causes, it typically occurs in patients with a predisposing gastrointestinal pathology. One possible cause of copper deficiency is zinc overload. Interestingly, zinc over-supplementation has been prevalent during the COVID-19 pandemic, as some believe that zinc can help prevent COVID-19 infection. Multiple case reports have illustrated the similarities between copper deficiency and myelodysplastic syndrome. They have also highlighted zinc over-supplementation as a potential cause. The following case report is unique in that our patient lacked gastrointestinal pathology. He still presented with the clinical and laboratory findings of MDS in the setting of copper deficiency. Further, this deficiency was caused by zinc over-supplementation in efforts to prevent COVID-19.
DOI: 10.6084/m9.figshare.22006271
title: Supplementary Material for: Cross-species convergence of brain transcriptomic and epigenomic findings in posttraumatic stress disorder: A systematic review

description: Introduction: Posttraumatic stress disorder (PTSD) is a complex multifactorial disorder influenced by the interaction of genetic and environmental factors. Analyses of epigenomic and transcriptomic modifications may help to dissect the biological factors underlying the gene-environment interplay in PTSD. To date, most human PTSD epigenetics studies have used peripheral tissue, and these findings have complex and poorly-understood relationships to brain alterations. Studies examining brain tissue may help characterize the brain-specific transcriptomic and epigenomic profiles of PTSD. In this review, we compiled and integrate brain-specific molecular findings of PTSD from humans and animals. Methods: A systematic literature search according to the PRISMA criteria was performed to identify transcriptomic and epigenomic studies of PTSD, focusing on brain tissue from human postmortem samples or animal-stress paradigms. Results: Gene- and pathway-level convergence analyses revealed PTSD-dysregulated genes and biological pathways across brain regions and species. A total of 243 genes converged across species, 17 of them significantly enriched for PTSD. Chemical-synaptic transmission and signaling by G-protein-coupled receptors (GPCRs) were consistently enriched in across -omics and species. Discussion: Our findings point out dysregulated genes highly replicated across PTSD studies in humans and animal models and suggest a potential role for the corticotropin-releasing hormone/orexin pathway in PTSD’s pathophysiology. Further, we highlight current knowledge gaps and limitations and recommend future directions to address them.
DOI: 10.6084/m9.figshare.22015268
title: Supplementary Material for: An autopsy case of elderly-onset brainstem acute disseminated encephalomyelitis

description: Acute disseminated encephalomyelitis (ADEM), which is a disease that causes multifocal inflammatory demyelination of the central nervous system, occurs predominantly in children and young adults. We report an autopsy case of an elderly man with brainstem ADEM that progressed over a period of about three months. An 82-year-old man developed disturbance of consciousness, dysphagia and ataxic gait over a period of about three months. He was admitted to another hospital for aspiration pneumonia and recovered, but was transferred to our hospital due to prolonged disturbance of consciousness. The patient was able to follow simple commands, but had a tendency to somnolence. In addition to meningeal stimulation signs, the patient had left-dominant upper and lower limb ataxia and right-dominant limb spasticity. Brain FLAIR/T2-weighted imaging showed high-intensity lesions from the brainstem to the middle cerebellar peduncle bilaterally, medulla oblongata and upper cervical spinal cord, and T1-weighted imaging revealed contrast-enhanced lesions in the left middle cerebellar peduncle and cervical spinal cord. Although spinal fluid examination revealed elevated proteins, other laboratory tests indicated no evidence of infection, vasculitis, collagen diseases or tumors, and anti-ganglioside, anti-AQP4 and anti-MOG antibodies were negative. After admission, the patient again developed aspiration pneumonia, which progressed to acute respiratory distress syndrome, and he died on the 15th day of hospitalization. Autopsy findings indicated acute and subacute demyelination mainly in the brainstem and cerebellum, and perivascular lymphocyte and macrophage infiltration in the areas of demyelination. A post-mortem diagnosis of ADEM was made based on the generally monophasic course of the disease and the absence of regenerating myelinated sheaths. There are very few reports of elderly patients with brainstem ADEM. ADEM should be considered as a differential diagnosis in patients with brainstem encephalitis.
DOI: 10.6084/m9.figshare.22109576
title: Supplementary Material for: Androgen deprivation therapy for intracranial metastasis of a salivary duct carcinoma – case report

description: Salivary duct carcinoma (SDC) is a rare subtype of salivary cancers associated with androgen receptor and human epidermal growth factor receptor 2 (HER2/neu) overexpression. It shows a high propensity to give rise to distant metastases mainly to the lung, the bone and the liver. Intracranial metastases are rare. We report the case of a 61-year-old male patient with SDC developing intracranial metastases. Unresponsive to radiotherapy and anti-HER/neu targeted therapy the intracranial metastases showed a very good partial remission to androgen deprivation therapy (ADT) with goserelin acetate. This case demonstrates the potential of a highly targeted therapy with a relatively cheap and well-known drug in a patient with a rare disease without other good therapeutic options, which is a good example of modern, personalized medicine.
DOI: 10.6084/m9.figshare.22128443
title: Supplementary Material for: One heartbeat away from a prediction model for cardiovascular diseases in patients with chronic kidney disease: a systematic review

description: Background: Patients with chronic kidney disease (CKD) have a high risk of cardiovascular disease (CVD). Prediction models, combining clinical and laboratory characteristics, are commonly used to estimate an individual’s CVD risk. However, these models are not specifically developed for patients with CKD and may therefore be less accurate. In this review we aim to give an overview of CVD prognostic studies available, and their methodological quality, specifically for patients with CKD. Methods: MEDLINE was searched for papers reporting CVD prognostic studies in patients with CKD published between 2012 and 2021. Characteristics regarding patients, study design, outcome measurement, and prediction models were compared between included studies. The risk of bias of studies reporting on prognostic factors or the development/validation of a prediction model were assessed with, respectively, the QUIPS and PROBAST tool. Results: In total, 134 studies were included, of which 123 studies tested the incremental value of one or more predictors to existing models or common risk factors, while only 11 studies reported on the development or validation of a prediction model. Substantial heterogeneity in cohort and study characteristics, such as sample size, event rate, and definition of outcome measurements, was observed across studies. The most common predictors were age (87%), sex (75%), diabetes (70%), and estimated glomerular filtration rate (eGFR) (69%). Most of the studies on prognostic factors have methodological shortcomings, mostly due to a lack of reporting on clinical and methodological information. Of the 11 studies on prediction models, six developed and internally validated a model and four externally validated existing or developed models. Only one study on prognostic models showed a low risk of bias and high applicability. Discussion: A large quantity of prognostic studies has been published, yet their usefulness remains unclear due to incomplete presentation, and lack of external validation of prognostic models. Our review can be used to select the most appropriate prognostic model depending on the patient population, outcome, and risk of bias. Future collaborative efforts should aim at improving existing models by externally validating them, evaluate the addition of new predictors, and assessment of the clinical impact.
DOI: 10.6084/m9.figshare.22153745
title: Supplementary Material for: The relationship between vascular aging phenotypes and renal damage among individuals with type 2 diabetes

description: Objective: To investigate the relationship between vascular aging (VA) phenotypes and renal damage in type 2 diabetic population. Methods: In this cross-sectional study, we included 8,141 individuals with type 2 diabetes who participated in the Kailuan Study during 2010 to 2018 and completed the brachial-ankle pulse wave velocity (baPWV) assessment for arterial stiffness, an indicator for VA. The age- and sex-specific 10th and 90th percentiles of baPWV based on a reference cohort were used as cutoffs to define supernormal VA (SUPERNOVA, baPWV&lt;10th percentiles), normal VA (NVA, baPWV 10th to 90th percentiles), and early VA (EVA, baPWV&gt;90th percentiles). The estimated glomerular filtration rate (eGFR) and proteinuria levels were used to assess renal damage, including isolated proteinuria, isolated kidney function decline (eGFR&lt;60ml/min/1.73m2), and proteinuria combined with kidney function decline. Multivariable logistic regression analysis was used to analyze the relationship between VA phenotypes and diabetic kidney damage. Results: The prevalence of isolated proteinuria, isolated kidney function decline, and proteinuria combined with kidney function decline was 17.0%, 12.2%, and 5.4%, respectively. Compared with NVA, SUPERNOVA was associated with 34% lower odds (95% confidence interval [CI]: 0.46-0.96) of isolated proteinuria after adjusting for age, sex, and other potential confounders. EVA was associated with higher odds of all three types of kidney damage; the adjusted odds ratio (95% CI) was 1.42 (1.20-1.67) for proteinuria, 1.24 (1.01-1.51) for kidney function decline, and 1.56 (1.18-2.06) for proteinuria combined with kidney function decline. Conclusions: Vascular aging phenotypes are associated with renal damage, especially isolated proteinuria. SUPERNOVA was associated with lower odds of isolated proteinuria and EVA was associated with higher odds of proteinuria and kidney function decline.
DOI: 10.6084/m9.figshare.22262392
title: Supplementary Material for: A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy

description: =Introduction: Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults and is characterized by detectable autoantibodies against glomerular antigens, most commonly phospholipase A2 receptor-1 (PLA2R1) and thrombospondin type-1 domain containing 7A (THSD7A). In Europeans genetic variation in at least five loci, PLA2R1, HLA-DRB1, HLA-DQA1, IRF4 and NFKB1 affect the risk of disease. Here, we investigated the genetic risk differences between different autoantibody states. Methods: 1409 MN individuals were genotyped genome-wide with a dense SNV array. The genetic risk score (GRS) was calculated utilising the previously identified European MN loci and results were compared with 4929 healthy controls and 422 individuals with steroid sensitive nephrotic syndrome. Results: GRS was calculated in the 759 MN individuals in whom antibody status was known. The GRS for MN was elevated in the anti-PLA2R1 antibody positive (N=372) compared with both the unaffected control (N=4929) and anti-THSD7A positive (N=31) groups (p&lt;0.0001 for both comparisons), suggesting that this GRS reflects anti-PLA2R1 MN. Among PLA2R1 positive patients, GRS was inversely correlated with age of disease onset (p=0.009). Further, the GRS in the dual antibody negative group (N=355) was intermediate between controls and the PLA2R1 positive group (p&lt;0.0001). Conclusion: We demonstrate that the genetic risk factors for PLA2R1- and THSD7A-antibody associated MN are different. A higher GRS is associated with younger age of onset of disease. Further, a proportion of antibody negative MN cases have an elevated GRS similar to PLA2R1-positive disease. This suggests that in some individuals with negative serology the disease is driven by autoimmunity against PLA2R1.
DOI: 10.6084/m9.figshare.22316758
title: Supplementary Material for: Success of pregnancy in a patient on high volume hemodiafiltration with citrate-acidified dialysate

description: Although pregnancy in dialysis patients is rare, recent reports in the literature have shown improvement in pregnancy outcome in this population. Increasing doses of dialysis has led to improvement in fetal prognosis, but recommendations are still lacking, and there are few documented reports of pregnant woman on high volume online hemodiafiltration. Here we report the first successful pregnancy in a 28-year-old patient on daily high volume online post-dilution hemodiafiltration with a citrate dialysate. At 37 weeks and 1 day she delivered a healthy 2.3 kg baby that did not require neonatal intensive care. This case report suggests that hemodiafiltration with a dialysate acidified with citrate is safe in pregnancy. Further reports and a registry are necessary to confirm that high volume online hemodiafiltration with a citrate dialysate should be the preferred dialysis modality in pregnant women.