Rare Type Research Articles

Metabolic Fingerprinting of Serum and Seminal Plasma of Testicular Cancer Patients Using Raman Spectroscopy: A Pilot Study.

Testicular cancer (TC) is a relatively rare type of cancer in men. Early diagnosis of TC remains challenging. Metabolomics holds promise in offering valuable insights in this regard. In this study, a metabolic fingerprinting approach was employed to identify potential biomarkers in both serum and seminal plasma of TC patients. A total of 9 patients with testicular cancer and 10 controls were included in the study. The metabolic fingerprinting approach was utilized as a rapid diagnostic tool to analyze the metabolome in serum and seminal plasma of TC patients in comparison to fertile men. Raman spectroscopy was applied for the analysis of metabolites in these biological samples. Principal component analysis (PCA) and functional group analysis showed that the differentiation between serum samples from healthy men and TC patients was not possible. However, when analyzing seminal plasma, a significant difference was found between the two groups (p<0.05). Functional group analysis of serum only showed an increase in tryptophan concentration ratio in TC patients as compared to healthy men (p=0.03). In contrast, in seminal plasma of TC patients, this increase was observed in all analyzed compounds, including phenylalanine, tyrosine, lipids, proteins, phenols (p<0.001). Our study highlights the potential of metabolic fingerprinting as a fast diagnostic tool for screening TC patients, with seminal plasma serving as a valuable biological sample. Furthermore, several potential biomarkers, particularly phenylalanine, were identified in seminal plasma. This research contributes to our understanding of TC pathogenesis and has the potential to pave the way for early detection and personalized treatment approaches.

Clinical Features and Classification of Proximal Carpal Fracture Dislocation Through the Radiocarpal Joint.

Background: The most common types of wrist dislocation are trans-scaphoid lunate dislocation (TLD) and trans-scaphoid perilunate dislocation, in which the lunate and proximal scaphoid are dislocated through the midcarpal joint. There is another rare type of dislocation in which the proximal carpi are dislocated through the radiocarpal joint. The purpose of this study is to examine the clinical features of this type of dislocation. Methods: Six cases of the proximal carpal fracture dislocation via the radiocarpal joint were retrospectively reviewed. All patients underwent open reduction and internal fixation with the ligament reconstruction. A Mayo wrist score was assigned to each patient based on the assessment of pain, functional status, range of motion and grip strength at the last follow-up. Clinical subjective evaluation of function and pain was assessed using the patient-rated wrist evaluation (PRWE) method. Results: All patients were male and injured with a median age of 33.5 years. The median follow-up period was 10 months. There were three types of dislocations: Scaphoid fracture dislocation, TLD and scaphoid-lunate dislocation. All patients had satisfactory results with an average PRWE of 7.2 ± 4.7. The preoperative VAS was 6.7 ± 1.0 and the postoperative VAS was 0.7 ± 0.7 (p < 0.01). Postoperative grip strength accounted for 89.2% ± 9.8% of the contralateral side; the Mayo wrist score averaged 90.0 ± 6.5, with four patients obtaining excellent and two good results. Conclusions: Fracture dislocation of the proximal carpal bones through the radiocarpal joint is an independent type of wrist dislocation that tends to occur in young men with high-energy impact. The wrist is most often injured in a pronation hyperextension position. If treatment is timely and appropriate, the prognosis is quite good. Level of Evidence: Level IV (Therapeutic).

Antiproliferative and Apoptosis-Inducing Effects of Ethanolic Extract of Morus Alba Leaves on Human Chronic Myeloid Leukaemia K-562 Cell Lines

The rate of occurrence and prevalence of chronic myeloid leukaemia (CML) are increasing globally, despite it being a rare type of cancer. Morus alba also known as mulberry, has been used in Chinese traditional medicine for a long time to treat various conditions and diseases like hypertension and arthritis. Modern scientific studies have also recognized its medicinal properties, including antioxidant, antidiuretic, antidiabetic, antimicrobial and anticancer. However, its antiproliferative effects on specifically human CML K-562 cell lines remain poorly elucidated. This study aims to determine the antiproliferative effects of M. alba on K-562 cells. In vitro cytotoxicity was evaluated using the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide (MTT) assay. Acridine orange and propidium iodide (AO/PI) dual staining were then employed to assess the method of cell death. The ethanolic extract of M. alba leaves exhibited significant antiproliferative activity, with the lowest maximal half inhibitory concentration (IC50) value observed at 72 hours being 23 µg/mL. Notably, AO/PI staining revealed significant morphological changes, such as membrane blebbing, nuclear fragmentation, and indicator of early apoptosis, and late apoptosis. These results demonstrated that ethanolic extract of M. alba leaves induces apoptotic cell death in K-562 cells. Overall, these findings suggested that ethanolic extract of M. alba leaves exerts potent antiproliferative effects on human CML K-562 cells a in time- and dose-dependent manner.

Association of imaging classification and histopathological grading in primary intraosseous meningioma of the skull

BackgroundPrimary intraosseous meningioma of the skull (PIMS) is a rare type of primary extradural meningioma (PEM) involving cranial bone. The existing literature strongly suggest the importance of radiological feacures in pathological diagnosis of PIMS. Thereby, the aim of this study is to investigate the association between imaging classification and histopathological grading in PIMS. MethodsIn this retrospective study, we retrospectively analyzed the computed tomography scan/magnetic resonance imaging and pathological data pertaining to patients with pathologically proven PIMS. The association between radiological features, imaging classification, and histopathological grading was analyzed using logistic regression analysis. ResultsIn this study, data of 25 patients with PIMS were assessed. The univariate logistic regression analysis results showed significant correlation between histopathological grading and imaging classification (OR: 22.5; 95% CI: 2.552–198.378; p = 0.005), intra- and extracalvarial extension (OR: 7.2; 95% CI: 1.066–48.639; p = 0.043), and tumor margin (OR: 7.19; 95% CI: 1.06–47.61; p = 0.043). According to the results of multivariate logistic regression analysis, imaging classification was the strongest independent risk factor for high-grade PIMS, and the risk of aggressiveness of osteoblastic type of PIMS was 16.664 times higher than that of osteolytic type of PIMS (OR: 16.664; 95% CI: 1.15–241.508; p = 0.039). ConclusionsImaging classification is an independent risk factor for high-grade PIMS.

Digital Catalogue of Encolpion Crosses from the Collection of V. V. Tarnovskyi

Today, preserving Ukraine’s cultural heritage is an integral task for museum organisations and research institutions. Digitising museum collections has become an important and timely task for museum’s employees. The creation of 3D-models of one of the collections of crosses-encolpions of the 10th—13th centuries which is stored in the repository of the Chernihiv Historical Museum named after V. V. Tarnovskyi was no exception. It took place in 2023 with the support of the Deutsches Archäologisches Institut (DAI). The aim of the project was to create a publicly available digital catalogue of the collection, which is posted on the website of the mentioned Museum named after V. V. Tanrnovskyi and on the sketchfaom/horm (fig.1). 53 encolpion crosses were in the archaeological part of the collection of V. V. Tarnovskyi at the end of the 19th century. Today only 21 encolpions from this collection are preserved in the Museum. Almost all reliquary crosses from the collection are dated to the period of Kyivan Rus, and only one item was an import from the Byzantine provinces. Various types of encolpions are represented: crosses with relief images (the most numerous), with blackened images and relief-blackened encolpion crosses. A rare type of reliquary crosses includes an encolpion back leaf with a relief image of John the Baptist with an accompanying inscription. Three-dimensional modeling and corresponding photogrammetric recording is quite widely used to digitise the smallest moving artefacts. Models are used for advanced recording and digital preservation of data, visualisation of research results, additional metrological studies, computer reconstructions, etc. Method of photogrammetric surveying was used during the creation of a digital catalogue of 3D-models of encolpion crosses. The result of the project is the creation of a multimedia visualised digital catalogue of the collection of encolpion crosses in free access on the global network, which presents a moving 3D-model of each arteifact and the main descriptive information. This will ensure the preservation of arteifacts in the digital dimension, their use in the Museum’s inteactive exhibitions, the creation of an accurate material copy of the arteifact, and allow remote analysis of materials by scientists for consultations, familiariszation wit artefacts, scintific analysis and writing of scientific articles.

Heterochronous multiple primary prostate cancer and lymphoma: A case report

BACKGROUND Multiple primary malignant tumors (MPMTs) are rare type of cancer, especially when solid tumors are the first and lymphoma is the second primary malignancy. We report a patient with heterochronous MPMTs consisting of prostate cancer and rectal diffuse large B-cell lymphoma (DLBCL). CASE SUMMARY We report a 77-year-old male patient diagnosed with prostate cancer who was treated with radiation therapy and one year of endocrine therapy with bicalutamide (50 mg per day) and an extended-release implant of goserelin (1/28 d). Seven years later, rectal DLBCL with lung metastases was found. CONCLUSION Although rare, the possibility of prostate cancer combined with a double primary cancer of DLBCL can provide a deeper understanding.

Presentation and treatment of two cases of malignant struma ovarii

BackgroundMalignant Struma Ovarii (MSO) is a rare type of germ cell tumour which is diagnosed postoperatively on surgical pathology specimens by the presence of differentiated thyroid cancer in mature cystic teratomas in the ovaries. Treatment and follow-up procedures are not clearly established due to the paucity of MSO cases.Case 1A 44-year-old multiparous female presented with an irregular period. Ultrasound showed a left ovarian lesion mostly a dermoid cyst, however, CT showed a 3.8 × 2.7 × 4 cm complex cystic lesion with thick septation and enhancing soft tissue component. Laparoscopic left salpingo-oophorectomy was performed and histopathology showed a follicular variant of papillary thyroid carcinoma arising in a mature cystic teratoma. Peritoneal cytology was positive for malignancy. A thyroid function test was normal before surgery. Total thyroidectomy was performed followed by radioactive (RAI) iodine therapy. Later, a total laparoscopic hysterectomy and right salpingo-oophorectomy were performed. There is no evidence of recurrent disease during the 26-months follow-up.Case 2A 46-year-old single female presented with left lower abdominal pain that had persisted for 2 months. Imaging revealed an 8 × 9 × 9.5 cm left ovarian mass. Laparoscopic left salpingo-oophorectomy was performed and histopathology showed mature cystic teratoma with small papillary thyroid cancer. CT showed no evidence of metastatic disease. Later, the patient had a total thyroidectomy followed by radioactive (RAI) iodine therapy. She was started on thyroxine and later had total abdominal hysterectomy and right salpingo-oophorectomy.ConclusionMSO is a very rare tumour. Preoperative diagnosis is very difficult because of the nonspecific symptoms and the lack of specific features in imaging studies. Also, there is no consensus on the optimal treatment of women with MSO. Our two cases add to the limited number of MSO cases.

Inclusion Body Myositis in Children: Does it Exist?

Context: Sporadic inclusion body myositis (sIBM) is a rare type of juvenile idiopathic inflammatory myopathies (JIIMs). It mainly affects skeletal muscles but can also affect the skin and other organs in the body. Sporadic inclusion body myositis prevalence in children under 18 years old is very rare. Objectives: This review provides an overview of the evidence of sIBM in children, discusses the possible clinical and pathological features, and explores the proposed pathogenesis. Methods: A literature review of over 44 articles in PubMed and other medical libraries, such as Google Scholar and Web of Science, was carried out using terms such as JIIM, IBM, Inflammatory Myopathies in Children, and Inherited IBM. Two documented reports for sIBM were found, and the rest included the disease pathogenesis, prevalence of inherited IBM, and other myopathies in children. Results: This review discussed the prevalence and incidence of JIIM, in particular sIBM in children. While IBM is typically sporadic, there have been rare cases where it is familial and inherited. Genetic susceptibility factors are believed to play a role in sIBM. Most patients with sIBM are over 50 years old and experience significant weakness in the quadriceps; however, patients with inherited IBM (h-IBM) typically present earlier in adulthood with a distinct pattern of weakness. Sporadic inclusion body myositis can be misdiagnosed as other forms of myopathies, such as juvenile dermatomyositis (JDM) or limb-girdle muscular dystrophy (LGMD), during the early stages of the disease. The exact causes of sIBM are still unknown; however, environmental factors, genetic predispositions, and immune dysregulation might contribute to the pathogenesis of the disease. Conclusions: Sporadic inclusion body myositis is a rare form of JIIMs. Its early diagnosis in children can be challenging due to the presence of other coexisting diseases. Discussions have revolved around potential environmental factors, such as viral infections, specific myositis-specific antibodies (MSAs), such as anti-Ro52, and possibly certain human leukocyte antigen (HLA) haplotypes. Given the rarity of reported cases of sIBM in children, it is important to encourage further studies to better understand the underdiagnosed instances of this condition.

Comparison of intravesical chemotherapy regimens after radical nephroureterectomy for upper tract urothelial carcinoma and analysis of risk factors for postoperative recurrence.

Upper tract urothelial carcinoma (UTUC) is a relatively rare but aggressive type of urologic cancer that includes renal pelvic tumors and ureteral tumors with a poor prognosis. Full-length nephroureterectomy plus sleeve bladder resection is the standard treatment for the disease, but patients are prone to recurrence of bladder tumors after surgery. Intravesical infusion therapy is the main means to prevent the recurrence and progression of bladder cancer. Epirubicin and gemcitabine are widely used in clinical practice as first-line or salvage therapy for intravesical chemotherapy; however, the efficacy of these agents is rarely discussed. The purpose of this study was to investigate the effects of epirubicin and gemcitabine on the occurrence of bladder cancer after radical nephroureterectomy for UTUC and to analyze the risk factors affecting the recurrence of postoperative bladder cancer. A total of 215 patients with diagnosed UTUC and treated in our hospital from June 2019 to August 2021 were retrospectively selected as the research subjects, and they were divided into an observation group (120 cases) and a control group (95 cases) according to different treatment methods. The patients in the control group were treated with epirubicin, while those in the observation group received gemcitabine. All patients were followed up by telephone or outpatient examination for 12 months to record the occurrence of adverse reactions. The occurrence of bladder cancer was recorded at 3 months, 6 months, and 12 months after the surgery. According to the occurrence of bladder cancer after surgery, the patients were divided into a bladder cancer group (63 cases) and a non-bladder cancer group (152 cases). Multivariate Logistic regression analysis was used to analyze the risk factors of bladder cancer after surgery. The total incidence of adverse reactions in the control group was 49.47%, which was higher than that in the observation group with 15.00% (p<0.01). The incidence of bladder tumors in the observation group and the control group was 0.00% and 2.11% at 3 months, 5.00% and 8.42% at 6 months, 13.33% and 15.79% at 12 months, without significant difference (p>0.05). After 12 months of perfusion, the levels of acidic fibroblast growth factor (aFGF), basic fibroblast growth factor (bFGF), and vascular endothelial growth factor (VEGF) in the two groups were significantly lower than those before perfusion (p<0.05). In the observation group, the levels of these three factors were slightly decreased compared with those in the control group, without a significant difference (p>0.05). Between the bladder cancer and non-bladder cancer groups, there were significant differences in tumor location, number of lesions, tumor stage, preoperative ureteral examination, and preoperative history of bladder cancer (p<0.05). The above indexes were all risk factors for postoperative bladder cancer (p<0.05). Epirubicin and gemcitabine reduced the occurrence of bladder cancer and effectively inhibited tumor angiogenesis after radical nephroureterectomy for UTUC. The tumor location, number of lesions, tumor stage, preoperative ureteral examination, and preoperative history of bladder cancer were risk factors for postoperative bladder cancer.

The role of adjuvant chemotherapy in patients with H3K27 altered diffuse midline gliomas: a multicentric retrospective study.

Adult Diffuse midline glioma (DMG) is a very rare disease. DMGs are currently treated with radiotherapy and chemotherapy even if only a few retrospective studies assessed the impact on overall survival (OS) of these approaches. We carried out an Italian multicentric retrospective study of adult patients with H3K27-altered DMG to assess the effective role of systemic therapy in the treatment landscape of this rare tumor type. We evaluated 49 patients from 6 Institutions. The median age was 37.3 years (range 20.1-68.3). Most patients received biopsy as primary approach (n = 30, 61.2%) and radiation therapy after surgery (n = 39, 79.6%). 25 (51.0%) of patients received concurrent chemotherapy and 26 (53.1%) patients received adjuvant temozolomide. In univariate analysis, concurrent chemotherapy did not result in OS improvement while adjuvant temozolomide was associated with longer OS (21.2 vs. 9.0 months, HR 0.14, 0.05-0.41, p < 0.001). Multivariate analysis confirmed the role of adjuvant chemotherapy (HR 0.1, 95%CI: 0.03-0.34, p = 0.003). In patients who progressed after radiation and/or chemotherapy the administration of a second-line systemic treatment had a significantly favorable impact on survival (8.0 vs. 3.2 months, HR 0.2, 95%CI 0.1-0.65, p = 0.004). In our series, adjuvant treatment after radiotherapy can be useful in improving OS of patients with H3K27-altered DMG. When feasible another systemic treatment after treatment progression could be proposed.

Epidermodysplasia verruciformis-associated eccrine neoplasm: a rare entity with distinctive clinical and histopathologic features.

Most tumors are caused by inherited or acquired genetic changes. However, a subset of tumors is driven by viral infection including Kaposi sarcoma, nasopharyngeal carcinoma, and others. Human papillomavirus (HPV) is an especially common cause of epithelial cancers and hyperplasias. Epidermodysplasia verruciformis (EDV) is a rare type of HPV infection with characteristic histopathologic features and a unique spectrum of HPV subtypes. We report here a distinctive form of EDV-associated eccrine neoplasia. Seven tumors from two patients were analyzed and show highly uniform features including multiple clustered clinical lesions, multifocal epidermal origin, eccrine differentiation with close association with the acrosyringium, an anastomosing growth pattern, and a bland monotonous poroid-to-basaloid cytomorphology. Clinical follow-up for one patient has been benign to date. These tumors show strong similarity to two previously reported cases, suggesting that this type of EDV-associated eccrine neoplasia may represent a rare but reproducible form of skin adnexal tumor with distinctive clinicopathologic features.

Therapeutic approaches for spinal synovial sarcoma: a comprehensive review of the literature.

Synovial sarcoma (SS) is a relatively rare type of soft-tissue sarcoma that is commonly treated with surgery, radiation, chemotherapy, and palliative care. Stereotactic radiosurgery (SRS) is an emerging approach that shows promise in treating CNS conditions, but it has not been studied for SS. The authors present a systematic review that explores the effectiveness of different treatments, with a focus on SRS, for managing spinal SS. A systematic PubMed search was conducted that covered studies from 1964 to 2022, yielding 70 relevant studies. Inclusion criteria encompassed primary and metastatic spinal SS, various treatment modalities, patient age 17 years or older, English-language studies, retrospective series, and case reports. Based on these criteria, 26 studies were included in this review and 44 were excluded. Of the included studies, 15 patients from 9 studies were treated with surgical intervention followed by both conventional radiotherapy (RT) and chemotherapy, 10 patients from 10 studies were treated with surgery followed by RT, 5 studies comprising 8 patients were exclusively treated with surgery, 5 cases in 3 studies were treated with surgery plus concomitant chemotherapy, 4 patients in 2 studies were treated with SRS, and only 1 study reported treatment without surgery and with chemotherapy and RT. The median progression-free survival and overall survival periods observed in the SRS-treated patients were 37 months and 60 months, respectively, which were higher than those of any other treatment method or combination used. The authors' study offers a thorough review of spinal SS treatments. They are hopeful that this will aid clinicians in informed decision-making for better patient outcomes.

Gene Biomarkers in Congenital Hyperinsulinism

Congenital hyperinsulinism (CHI) is a rare type of disease that causes a severe drop in blood sugar in infants. This diseaseprevents reaching enough sugar to the child’s brain and causes lifelong and permanent damage. This study aims to investigate genebiomarkers in congenital hyperinsulinism. In this study, after reviewing the texts and searching for the bioinformatics databases of NCBI,Genecards, Swiss-prot, Diseasome, etc., the genes involved in the disease based on at least one of the methods in-vivo, in-vitro, and insilicohas been extracted as candidate genes. The expression data obtained from each group was standardized compared to the controlgroup to compare the results in case and control groups. Then, the connection network of expression data of candidate genes in patientsand healthy people were drawn separately with the help of MATLAB software (Version 9.1), and the correctness of these networks anddetermined biomarkers were checked using the rectome and diseasome database. All statistical calculations were done using R and Matlabsoftware. In the present study, the essential genes of CHI disease were identified using 5 central criteria, including maximum neighborhoodcomponent, degree, closeness, radiality, and betweeness. Based on the results of the central criteria method, INS-PRKACA-PRKACBPRKACG-AKT1 genes had the most repetitions. According to the identification of the most effective genes related to CHI disease in thepresent study, it is suggested that further studies need to be designed at the in vitro and clinical levels on the identified effective genes asdiagnostic biomarkers of CHI disease.

Primary hepatic angiosarcoma: a systematic review.

Hepatic angiosarcoma is a rare type of tumour. In adults, the diagnosis remains challenging as the clinical manifestations are generally nonspecific and are usually made too late when complications or metastases are already present, associated with a poor prognosis. Due to the lack of agreement regarding the optimal treatment approach, a comprehensive analysis of the evidence in the literature on the surgical and survival outcomes in terms of disease-free survival time (DFS) and overall survival (OS) for patients treated for primary hepatic angiosarcoma is needed. A systematic review of articles published in Pubmed, EMBASE, and Scopus, from 2000 to 2023 with the search terms hepatic angiosarcoma and liver resection or hepatectomy. Pooled individual data concerning the prognosis following various therapies was analyzed. A total of 15 articles involving 886 patients were eligible for inclusion. The male population represents 66.2% (n=586) of the population, with a median age of 57 years (41-66). The median survival rate was 7 months. The median OS after surgical resection was 17.18 months (SD 12.6) vs. 3.72 months (SD 4.6) for patients treated without a surgical approach. The median DFS was 15.2 months (SD 11). Primary liver angiosarcoma remains a surgical challenge with a poor prognosis even with complete surgical resection and adjuvant therapy. Surgical management shows increased overall survival in comparison with non-surgical management. Early diagnosis could change the natural history of the disease. The literature available is scarce, and further studies are required to create standardized diagnostic and treatment protocols.

Kamennye krugi v Evropejskom Arkticheskom regione: voprosy hronologii i atribucii

A rare type of megaliths on the Kola Peninsula, or the so-called stone circles, was investigated near the settlement of Kilp’iavr (Murmansk region). The overall chronology of the objects of the kind in Central and Northern Europe is from the Early Roman Period to the Middle Ages. The connection of stone circles of the Circum-Baltic Area with similar complexes in the Subarctic and Arctic areas of Norway and the north-west of the Kola Peninsula has been suggested. The article supposes that the site in question was a funeral cenotaph. The appearance of the stone circles so far in the North possibly was a result of the emergence of fur trade, with its routes controlled by troops of militarised barbarians of predominantly Germanic and Finnish origin.

Two Uncommon Cases of Pediatric Transethmoidal–Transnasal Encephaloceles with a Review of Literature

AbstractEncephaloceles are defined as the herniation of brain matter beyond the confines of the skull bone through a defect on the cranium or face. The encephaloceles are classified into different categories as per onset as congenital or traumatic, as per contents as meningocele, meningoencephalocele, and hydromeningoencephalocele, and as per anatomical location into frontoethmoid, basal, occipital, and cranial vault. Transethmoidal encephalocele is a rare type of encephalocele with a very few patients reported in the literature to date. We are presenting two cases of transethmoidal–transnasal encephalocele in the pediatric age group with one being congenital and other traumatic in onset. The first child presented with a mass visible inside the nasal cavity since birth with nasal obstruction. The second child presented with a history of trauma 5 years back followed by occasional cerebrospinal fluid leak, fever, and nasal stuffiness. Both patients underwent craniotomy and excision of the encephalocele with repair of the defect in the cribriform plate. These two uncommon cases highlight the different onsets of the disease successfully managed surgically.

Nystagmus and Imbalance as the Presenting Symptoms of AntiGad Antibody Syndrome in A 67-Year-Old Female

Autoimmune encephalitis is a serious condition that causes brain inflammation, usually mediated by antibodies to various neuronal antigens [1]. One of the many antigens that may generate an immune response and cause this type of inflammation is the glutamic acid decarboxylase enzyme (GAD). AntiGAD (glutamic acid decarboxylase) antibodies are targeted against the GAD enzyme that converts glutamate to GABA, which is the nervous system’s primary inhibitory neurotransmitter [2]. With the body’s primary inhibitory neurotransmitter compromised, anti-GAD antibody syndrome is a rare type of autoimmune encephalitis that results in various symptoms related to prolonged excitation, such as seizures or nystagmus [3]. We present a rare case of autoimmune encephalitis caused by significantly elevated Anti-GAD antibody, with concomitant rheumatoid arthritis in the hands/wrists; symptoms of downbeat nystagmus, diplopia, headaches, and joint pain are improved with rituximab and IVIG infusion, following an unsuccessful treatment with oral prednisone.

Valence Tautomerism Induced Proton Coupled Electron Transfer:X-H Bond Oxidation with a Dinuclear Au(II) Hydroxide Complex.

We report the preparation and characterization of the dinuclear AuII hydroxide complex AuII 2(L)2(OH)2 (L=N,N'-bis (2,6-dimethyl) phenylformamidinate) and study its reactivity towards weak X-H bonds. Through the interplay of kinetic analysis and computational studies, we demonstrate that the oxidation of cyclohexadiene follows a concerted proton-coupled electron transfer (cPCET) mechanism, a rare type of reactivity for Au complexes. We find that the Au-Au σ-bond undergoes polarization in the PCET event leading to an adjustment of oxidation levels for both Au centers prior to C(sp3)-H bond cleavage. We thus describe the oxidation event as a valence tautomerism-induced PCET where the basicity of one reduced Au-OH unit provides a proton acceptor and the second more oxidized Au center serves as an electron acceptor. The coordination of these events allows for unprecedented radical-type reactivity by a closed shell AuII complex.

Valence Tautomerism Induced Proton Coupled Electron Transfer:X−H Bond Oxidation with a Dinuclear Au(II) Hydroxide Complex

AbstractWe report the preparation and characterization of the dinuclear AuII hydroxide complex AuII2(L)2(OH)2 (L=N,N′‐bis (2,6‐dimethyl) phenylformamidinate) and study its reactivity towards weak X−H bonds. Through the interplay of kinetic analysis and computational studies, we demonstrate that the oxidation of cyclohexadiene follows a concerted proton‐coupled electron transfer (cPCET) mechanism, a rare type of reactivity for Au complexes. We find that the Au−Au σ‐bond undergoes polarization in the PCET event leading to an adjustment of oxidation levels for both Au centers prior to C(sp3)−H bond cleavage. We thus describe the oxidation event as a valence tautomerism‐induced PCET where the basicity of one reduced Au−OH unit provides a proton acceptor and the second more oxidized Au center serves as an electron acceptor. The coordination of these events allows for unprecedented radical‐type reactivity by a closed shell AuII complex.

Single-cell RNA sequencing reveals cell type-specific immune regulation associated with human neuromyelitis optica spectrum disorder.

One rare type of autoimmune disease is called neuromyelitis optica spectrum disorder (NMOSD) and the peripheral immune characteristics of NMOSD remain unclear. Here, single-cell RNA sequencing (scRNA-seq) is used to characterize peripheral blood mononuclear cells from individuals with NMOSD. The differentiation and activation of lymphocytes, expansion of myeloid cells, and an excessive inflammatory response in innate immunity are observed. Flow cytometry analyses confirm a significant increase in the percentage of plasma cells among B cells in NMOSD. NMOSD patients exhibit an elevated percentage of CD8+ T cells within the T cell population. Oligoclonal expansions of B cell receptors are observed after therapy. Additionally, individuals with NMOSD exhibit elevated expression of CXCL8, IL7, IL18, TNFSF13, IFNG, and NLRP3. Peripheral immune response high-dimensional single-cell profiling identifies immune cell subsets specific to a certain disease and identifies possible new targets for NMOSD.