cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.22242139
title: Supplementary Material for: Intraplacental Choriocarcinoma in Twin Pregnancy Causing Fetomaternal Haemorrhage and Single Twin Demise: Case Report

description: Gestational choriocarcinoma is a rare aggressive form of gestational trophoblastic neoplasia. In cases of intraplacental choriocarcinoma the tumour is confined to the placenta. Intraplacental choriocarcinoma in twin pregnancies is a very rare occurrence with less than five previously reported cases in the literature. In this case a 34-year-old primiparous woman, pregnant with dichorionic diamniotic (DCDA) twins, underwent an emergency caesarean section for fetal distress at 35 weeks gestation after presenting in preterm labour. Twin A was delivered with no signs of life. The demise was attributed to fetomaternal haemorrhage (FMH) secondary to intraplacental choriocarcinoma. The mother’s HCG normalised quickly postpartum with no radiological signs of metastatic disease. She has been managed conservatively with monthly HCG surveillance with no signs of recurrence. Twin B remains well with negative HCG surveillance. Although gestational choriocarcinoma can be aggressive and associated with poor obstetric outcomes, it has a good prognosis when diagnosed and treated early. The importance of detailed histopathological placental examination and clinical suspicion for choriocarcinoma following FMH is highlighted by this case.
DOI: 10.6084/m9.figshare.22262950
title: Supplementary Material for: Identification of a hypoxia-related signature as candidate detector for schizophrenia based on genome-wide gene expression

description: Introduction: Schizophrenia (SCZ), a severe neuropsychiatric disorder with high genetic susceptibility, has high rates of misdiagnosis due to the unavoidably subjective factors and heterogeneous clinical presentations. Hypoxia has been identified as an importantly risk factor that participates in the development of SCZ. Therefore, development of a hypoxia-related biomarker for SCZ diagnosis is promising. Therefore, we dedicated to develop a biomarker that could contribute to distinguishing healthy controls and SCZ patients. Methods: GSE17612, GSE21935 and GSE53987 datasets, consist of 97 control samples and 99 SCZ samples, were involved in our study. The hypoxia score was calculated based on the single-sample gene-set enrichment analysis (ssGSEA) using the hypoxia-related differentially expressed genes to quantify the expression levels of these genes for each SCZ patients. Patients in high-score groups were defined if their hypoxia score was in the upper half of all hypoxia scores, and patients in low-score groups if their hypoxia score were in the lower half. GSEA was applied to detect the functional pathway of these differently expressed genes. CIBERSORT algorithm was utilized to evaluate the tumor-infiltrating immune cells of SCZ patients. Results: In this study, we developed and validated a biomarker consisting of 12 hypoxia-related genes that could distinguish healthy controls and SCZ patients robustly. We found that the metabolism reprogramming might be activated in patient with high hypoxia score. Finally, CIBERSORT analysis illustrated that lower composition of naive B cells and higher composition of memory B cells might be observed in low-score groups of SCZ patients. Conclusion: These findings revealed that the hypoxia-related signature was acceptable as a detector for SCZ, providing further insight into effective diagnosis and treatment strategies for SCZ.
DOI: 10.6084/m9.figshare.22333174
title: Supplementary Material for: Delayed Nonarteritic Posterior Ischemic Optic Neuropathy Following Herpes Zoster Ophthalmicus: A Case Report

description: Posterior ischemic optic neuropathy (PION), a relatively rare condition, is diagnosed primarily based on the clinical presentation of sudden visual impairment, an optic nerve-related visual field defect, and an initial normal optic disc that corresponds to its pathology of acute ischemia. Among its etiologies, nonarteritic PION is one of the most common causes. Studies on cases of PION associated with herpes zoster ophthalmicus (HZO) are limited, and the diagnosis was made based on the appearance of visual symptoms shortly following rashes. We describe a 64-year-old Asian woman with sudden painless visual loss in the upper half visual field of the left eye 6 weeks after ipsilateral HZO. Within a week, her left vision progressed to total visual loss. Initial examination revealed a near-total visual defect and a normal appearance of the optic disc in the left eye. Laboratory and imaging studies excluded the compressive, infiltrative, or inflammatory etiologies of the left optic nerve. Considering the temporal relationship between the skin rash and visual loss, HZO was the most likely cause of the nonarteritic PION. The patient was given a short course of oral valaciclovir and aspirin. At 6 weeks after the visual loss, an examination revealed stationary visual acuity and visual field defect in the left eye with a pale optic disc, and a retinal nerve fiber loss in the left eye. Compared with previous studies, our case demonstrated a delayed presentation of nonarteritic PION following HZO and broadened the scope of herpes zoster optic neuropathy.
DOI: 10.6084/m9.figshare.22560643
title: Supplementary Material for: Behavioral changes after psychiatric genetic counseling: an exploratory study

description: Introduction: Though it is well established that genetic information does not produce behavior changes, there are limited data regarding whether genetic counseling can facilitate change in life-style and health behaviors that can result in improved health outcomes. Methods: To explore this issue, we conducted semi-structured interviews with eight patients who had lived experience of psychiatric illness, and who had received psychiatric genetic counseling (PGC). Using interpretive description, we used a constant comparative approach to data analysis. Results: Participants talked about how, prior to PGC, they held misconceptions and/or uncertainties about the causes of and protective behaviors associated with mental illness, which caused feelings of guilt, shame, fear and hopeless. Participants reported that PGC reframed things in a way that provided them a sense of agency over illness management, allowed a greater acceptance of illness, and provided release from some of the negative emotions associated with their initial framing of their illness, which seemed to be related to the self-reported increase in engagement in illness management behaviors and consequent improved mental health outcomes. Conclusion: This exploratory study provides data to support that through addressing emotions associated with perceived cause of illness and facilitating understanding of etiology and risk-reducing strategies, PGC may lead to an increase in behaviors, which protect mental health.
DOI: 10.6084/m9.figshare.22573759
title: Supplementary Material for: High Inner Centromere Protein (INCENP) expression correlates with aggressive features and predicts poor prognosis in patients with invasive breast cancer

description: Background: Inner centromere protein (INCENP) is a member of the chromosomal passenger complex (CPC) and plays a key role in mitosis and cell proliferation. This study aims to evaluate the clinical and prognostic significance of INCENP in invasive breast cancer (BC). Material and Methods: INCENP protein expression was evaluated on a tissue microarray of a large BC cohort (n=1295) using immunohistochemistry. At the mRNA level, INCENP expression was assessed using the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) (n=1980) and Cancer Genome Atlas (TCGA) BC cohorts (n=854). The correlations between INCENP expression, clinicopathological parameters and patient outcome were investigated. Results: INCENP protein expression was detected in the nucleus and cytoplasm of the tumour cells. Its expression was significantly associated with features characteristic of aggressive BC behaviour including high tumour grade, larger tumour size and high Nottingham Prognostic Index scores. High INCENP nuclear expression was a predictor of shorter BC-specific survival (BCSS) in the whole cohort, as well as in the luminal subtype (p&lt;0.001). High INCENP nuclear expression was predictive of poor prognosis in BC patients who received hormone treatment or chemotherapy. Conclusion: High INCENP expression is a poor prognostic biomarker in BC with potential therapeutic benefits.
DOI: 10.6084/m9.figshare.22652086
title: Supplementary Material for: Treatment Response of Sacrococcygeal Chordoma to Palliative Stereotactic Body Radiotherapy: A Case Report

description: Chordomas are rare and locally aggressive tumours that arise from embryonic remnants of the notochord, with a predilection for the skull base, mobile spine and sacrum. Sacral or sacrococcygeal chordomas can be particularly difficult to manage because of their large size at presentation and involvement of adjacent organs and neural structures. Although the recommended definitive therapy for such tumours is either en-bloc resection with or without adjuvant radiotherapy (RT) or definitive fractionated RT with charged particle therapy, older and/or less-fit patients may not necessarily be accepting of said approaches due to the potential morbidities and challenging logistic requirements. Here, we report a case of a 79-year-old male presenting with intractable lower limb pain and neurological deficits due to a large de-novo sacrococcygeal chordoma. The patient was successfully treated with a 5-fraction course of stereotactic body radiotherapy (SBRT) given with palliative intent, with complete relief of his symptoms achieved approximately 21 months after RT and without the development of any iatrogenic toxicities. In view of this case, ultra-hypofractionated SBRT may be a suitable option for the palliation of large de-novo sacrococcygeal chordomas for selected patients to reduce their symptom burden and improve their quality-of-life (QOL).
DOI: 10.6084/m9.figshare.22652215
title: Supplementary Material for: A 15-year-old boy with primary maxillary bone anaplastic lymphoma kinase-positive anaplastic large cell lymphoma relapsed with rib metastasis after spontaneous remission of a maxillary bone lesion: a case report and literature review

description: Anaplastic large cell lymphoma (ALCL) is a rare form of non-Hodgkin's lymphoma (NHL) in children, accounting for 10-15% of all NHL cases. ALCL is currently classified into categories of: 1) systemic anaplastic lymphoma kinase (ALK)-positive, 2) systemic ALK-negative, 3) primary cutaneous, and 4) breast implant-associated ALCL. In children, systemic ALK-positive ALCL is most common, and patients often present with extranodal involvement. We report a rare case of systemic ALK-positive ALCL with primary bone involvement in a 15-year-old male. Primary bone lymphoma is most commonly observed in diffuse large B-cell lymphoma, and is extremely rare in systemic ALCL. Therefore, the clinical features and prognosis of primary bone ALCL remain unclear. Our patient had spontaneous remission of primary maxillary bone ALCL after gingival scraping but relapsed one year later with rib metastasis. Spontaneous remission of ALCL has been reported more frequently in primary cutaneous ALCL and in a few cases in systemic ALCL, excluding primary bone ALCL. Our case demonstrates for the first time that systemic ALCL can also present as solitary bone involvement that can spontaneously remit. Because systemic ALCL is aggressive and has a risk of relapse, as in our case, it is important to consider ALCL in the differential diagnosis of primary bone lesions, and to make a precise pathological diagnosis.
DOI: 10.6084/m9.figshare.22665643
title: Supplementary Material for: Medication-related osteonecrosis of the jaw case report: Successful medical management of complex maxillary alveolus with sinus involvement

description: Medication-related osteonecrosis of the jaw (MRONJ) in cancer patients presents a considerable challenge in management. Current management is primarily based on interventions in a limited number of cases assessing a single approach. Medical management typically is reported to include antimicrobial therapy with or without surgery. Advances in the understanding of pathogenesis have led to the investigation of additional medical interventions for early-stage necrosis. We present three patients with advanced-stage MRONJ of the maxilla using combined medical modalities including antimicrobial therapy, photobiomodulation therapy (PBM) and pentoxifylline and vitamin E, and synthetic parathyroid hormone. All patients had a good outcome and avoided surgical intervention. We also report biological and functional imaging that may assist in more effective diagnosis and management of MRONJ. The three patients reported suggest that combined medical management should be considered in all cases of MRONJ (including Stage III) prior to determining if surgical intervention is required. In all patients, surgical intervention was not necessary. Functional imaging with technetium bone scan or PET scan correlated with diagnosis and confirmed resolution in patients. We present three challenging MRONJ patients that were effectively managed with a combined medical and non-surgical therapy that demonstrated good clinical outcomes avoiding surgical interventions.
DOI: 10.6084/m9.figshare.22699735
title: Supplementary Material for: Isolated proteinuria caused by CUBN gene mutations:case report and review of the literature

description: Mutations in the cubilin (CUBN) gene commonly cause Imerslund-Gräsbeck syndrome (IGS) while isolated proteinuria as a result of CUBN variations is rarely reported. The clinical manifestation is mainly chronic isolated proteinuria in the non-nephrotic range. However, findings to date suggest that isolated proteinuria associated with abnormalities in the CUBN gene is benign and does not affect long-term prognosis of kidney function.We identified two patients with isolated proteinuria triggered by compound heterozygous CUBN mutations. Renal functions of both patients remained normal over a 10-year follow-up period, supporting the benign nature of proteinuria caused by CUBN gene variations. Two novel mutation sites were detected, expanding the genotypic spectrum of CUBN variations. In addition, etiology, pathogenesis, clinical manifestations, auxiliary examination and treatment of the condition were reviewed, with the aim of providing further guidance for clinical management.
DOI: 10.6084/m9.figshare.5226115
title: Laser safety calculator for laser eye dazzle effects and protection

description: Laser safety calculator for laser eye dazzle effects and protection.
DOI: 10.17632/7fxrsc8fmn.1
title: Effects of fucoidan on the HCoV-OC43 induced expression of chemokines, cytokines and viral responsive genes in MRC-5 cells

description: To illustrate more comprehensively the effect of fucoidan on HCoV-OC43 infected cells, we profiled the gene expression of HCoV-OC43 infected MRC-5 cells treated and un-treated with fucoidan (U. pinnatifida) over a period of six hours by using RNA sequencing to dissect viral activity and chemokine/cytokine responsive genes.
Dataset included Differential Expression Gene (DEG) Analysis and GO classification of up-regulated and down-regulated genes of viral activity and chemokines/cytokines. GO classification of DEGs, which reflects in the biological process, cellular component, and molecular function.
DOI: 10.6084/m9.figshare.21976022
title: Supplementary Material for: Pool Toes: A Case report

description: Pool toes, a sport-related dermatosis, are caused by mechanical friction and water exposure, resulting in a special variant of irritant contact dermatitis. It is common in children, often misdiagnosed, and rarely reported. Here we report a case of a 7-year-old girl who developed this unusual type of frictional dermatitis , a pool toes diagnosis has been made. With topical corticosteroids, favorable results have been achieved . The recovery and healing process will be facilitated if one is aware of the underlying causes of such dermatitis and ceases the triggering factors.
DOI: 10.6084/m9.figshare.21988781
title: Supplementary Material for: Gastric Diffuse Large B-Cell Lymphoma (DLBCL) in an Adolescent: A Case Report

description: Non-Hodgkin Lymphoma (NHL) is the 11th most common cancer worldwide and the 4th most common pediatric cancer. The GI tract is the most common extranodal site of NHL, making up about 30–40% of extranodal cases. The median age at diagnosis for gastrointestinal NHL (gNHL) is around 61. On the other hand, gNHL is very rare in the pediatric population. Herein, we report the case of a 15-year-old girl who complained of abdominal pain and vomiting after meals, with severe B symptoms (fever, night chills, and severe weight loss). Esophagogastroduodenoscopy (EGD) showed a mass in the lesser curvature of the stomach. Subsequent biopsy and immunostaining of the sample confirmed the diagnosis of diffuse large B-cell lymphoma (DLBCL). CT and PET-CT scans indicated the involvement of mesenteric and lesser omental lymph nodes. Later on, the patient started an R-CHOP chemotherapy regimen. In this report, we aim to shine the light on such a rare disease in this age group.
DOI: 10.6084/m9.figshare.22058972
title: Supplementary Material for: Capsule endoscopy-based diagnosis of lung squamous cell carcinoma associated with abdominal pain and metastasis to small intestine：A case report

description: The gastrointestinal metastases of lung cancer（GMLC）is rare, but is more frequent than expected in patients with longer survival. In particular, the small intestinal metastases often have few or no symptoms, making early diagnosis difficult. We present an extremely rare case of a lung squamous cell carcinoma with abdominal pain metastasis to small intestine. The patient underwent capsule endoscopy, which revealed an irregular mass with hemorrhage in the distal ileum, followed by a ileal resection and anastomosis paralleled by the part of Bladder resection through laparoscopy. The pathological biopsy confirmed that the small intestine mass was consistent with metastatic squamous cell carcinoma. Capsule endoscopy, as a non-invasive test, can quickly and intuitively obtain the etiological diagnosis, and the use of it makes up for the lack of diagnostic methods. Early diagnosis and treatment play a positive role in the prognosis of the GMLC patients.
DOI: 10.6084/m9.figshare.22133354
title: Supplementary Material for: Addressing emotional dysregulation and potential pharmacogenetic implication of 5-HTTLPR genotype in ADHD

description: This review unpacks the emotional presentation of externalizing behaviors in attention deficit hyperactivity disorder (ADHD), by diving into the psychophysiology, neurophysiology and neurogenetics in relation to executive function. The correlations among these three variables are identified, showing that standard assessments for ADHD leaves out the emotional dysregulation element. This may lead to suboptimal management outcomes during the development progression into adolescence and adulthood. The emotional impulsivity manifestation in adolescence and adulthood related to the under-managed emotional dysregulation in childhood is found to be associated with subtle confounding impact of 5-HTTLPR genotype. The genotype of interest affects the neurochemistry, neurophysiology and psychophysiology of the cognition for executive function. The established practice of using methylphenidate in treating ADHD, surprisingly has a neurogenetic effect in targeting the genotype of interest. Methylphenidate provides neuroprotective effects throughout the neurodevelopment timeline from childhood to adulthood. The emotional dysregulation element in ADHD which is often overlooked should be addressed to improve the prognostic outcomes in adolescence and adulthood.
DOI: 10.6084/m9.figshare.22242208
title: Supplementary Material for: A giant paratesticular liposarcoma, case report and literature review

description: Liposarcoma of the spermatic cord (LSC) is a very rare disease. In literature, are reported less than 350 cases. Genitourinary sarcomas account for &lt;5% of all soft-tissue sarcomas and &lt;2% of malignant urologic tumors. An inguinal mass is the clinical presentation, which can mimic a hernia or hydrocele. Since it is such a rare disease, there are insufficient data on chemotherapy and radiotherapy, and in any case, the data comes from low-level scientific evidence. Here we report the case of a patient who came to the observation for a giant inguinal mass, in which a definitive diagnosis was obtained with the histological examination.
DOI: 10.6084/m9.figshare.22269022
title: Supplementary Material for: Evaluation of retinal microvascular features in patients with amblyopia based on optical coherence tomography angiography: a systematic review and Meta-analysis

description: Abstract Background: The performance of optical coherence tomography angiography (OCTA) in macular microvasculature of patients with amblyopia has been widely studied, but these studies have yielded different and controversial results. Objectives: To investigate retinal microvascular features in patients with amblyopia undergoing OCTA. Methods: PubMed, Embase, and Web of Science were searched for published articles comparing the retinal microvascular features between individuals with amblyopia and controls until April 2022. The mean difference with a 95% confidence interval was used to assess continuous variables. Results: The analysis included 17 studies. The whole vessel density of the superficial capillary plexus (SCPVD) was lower in amblyopic eyes (AE) than in normal control eyes (NE) in 3 × 3 mm2 scans, while the perifoveal vessel density of superficial and deep capillary plexus was lower in 6 × 6 mm2 scans. The whole parafoveal vessel density of deep capillary plexus (DCPVD) and parafoveal-SCPVD were lower in both scans. The comparison between amblyopic eyes and fellow eyes (FE) revealed no statistical difference in all quadrants except the parafoveal and perifoveal-SCPVD and the foveal-DCPVD. Additionally, SCPVD in all quadrants except the fovea and DCPVD in all quadrants except the parafoveal were higher in fellow eyes compared to normal control eyes. No significant difference was found in the foveal avascular area between AE and NE, AE and FE, or NE and FE. Conclusions: The retinal vessel density of superficial and deep capillary plexus in amblyopic and fellow eyes was lower than in normal controls, and differences were more likely discovered using 6 × 6 mm2 scans. Consequently, OCTA may be utilized as a diagnostic tool to identify and monitor patients with amblyopia.
DOI: 10.6084/m9.figshare.22277635
title: Supplementary Material for: Sustained, effortless weight loss after damage to the left frontoinsular cortex – a case report

description: This case report highlights a possible consequence of damage to the left frontoinsular region. A 53-year-old woman with chronic obesity and headaches presented with seizure, leading to the discovery and resection of a large sphenoid wing meningioma. Post-operative brain imaging revealed loss of the left frontoinsular cortex and portions of the underlying white matter, claustrum, and striatum. Throughout her adult life, this patient had tried and failed to lose weight, but after surgery she no longer desired to eat large meals, and without effort, her BMI decreased from 38.6 (85th percentile) to 24.9 (25th percentile). Combined with previous research implicating the insular cortex in interoception, appetite, and drug-related urges, her reduced hunger and effortless weight loss after resection of the left frontoinsular cortex suggests that this region of the human brain may play a role in hunger-related urges that contribute to overeating.