OpenMed/multicare-articles huggingface dataset:
Protein-A immunoadsorption combined with immunosuppressive treatment in refractory primary Sjögren's syndrome coexisting with NMOSD: a case report and literature review
Authors: Wei Fan, Xuyan Chen, Pingping Xiao, Bo Wei, Yi Zhang, Jinmei Huang, Shufan Wu, Liangjing Lu
Journal: Front Immunol (2024)
Keywords: nmosd, sjögren’s syndrome, case report, immunoadsorption, treatment
MeSH terms: Immunosuppressive Agents / therapeutic use, Neuromyelitis Optica / diagnosis, Neuromyelitis Optica / immunology, Neuromyelitis Optica / therapy, Sjogren's Syndrome / complications, Sjogren's Syndrome / diagnosis, Sjogren's Syndrome / immunology, Sjogren's Syndrome / therapy, Case Reports, Review, Adult, Aquaporin 4 / immunology, Autoantibodies / blood, Autoantibodies / immunology, Combined Modality Therapy, Female, Humans, Immunosorbent Techniques, Staphylococcal Protein A / immunology, Treatment Outcome, Immunosuppressive Agents, Staphylococcal Protein A, Autoantibodies, Aquaporin 4

The treatment of primary Sjögren's syndrome (pSS) coexisting with neuromyelitis optica spectrum disorder (NMOSD) using protein-A immunoadsorption combined with immunosuppressive therapy has rarely been reported. Herein, we present the case of a 35-year-old female diagnosed with pSS concomitant with NMOSD (pSS-NMOSD) who demonstrated a positive response to protein-A immunoadsorption after failing to respond to therapy comprising high-dose intravenous methylprednisolone (IVMP) and intravenous immunoglobulin (IVIG). Within one week of receiving three sessions of immunoadsorption combined with immunosuppressive treatment, the patient's clinical symptoms (blurred vision, paraparesis, and dysfunctional proprioception) significantly improved. Additionally, a rapid decrease in the circulating levels of Aquaporin-4 immunoglobulin G antibodies (AQP4-IgG), immunoglobulin (Ig) A, IgG, IgM, erythrocyte sedimentation rate (ESR), and rheumatoid factor (RF) were observed. Magnetic resonance imaging (MRI) further revealed a significant reduction in the lesions associated with longitudinal extensive transverse myelitis. During the follow-up period, prednisolone was gradually tapered to a maintenance dose of 5-10 mg/day, whereas mycophenolate mofetil (MMF) was maintained at 1.0-1.5 g/day. The patient's condition has remained stable for four years, with no signs of recurrence or progression observed on imaging examination. Therefore, this case suggests that protein A immunoadsorption may represent a potentially effective therapeutic option for patients with pSS-NMOSD who are refractory to conventional treatments.
Botulinum neurotoxin type A in the interdisciplinary treatment of sialorrhea in adults and children-update and practice recommendations
Authors: Wolfgang H Jost, Tobias Bäumer, Andrea Bevot, Ulrich Birkmann, Carsten Buhmann, Maria Grosheva, Orlando Guntinas-Lichius, Rainer Laskawi, Sebastian Paus, Christina Pflug, A Sebastian Schroeder, Björn Spittau, Armin Steffen, Bernd Wilken, Martin Winterholler, Steffen Berweck
Journal: Front Neurol (2023)
Keywords: bont/a, incobotulinumtoxina, botulinum neurotoxin type a, botulinum toxin, hypersalivation, practice recommendations, quality of life, sialorrhea
MeSH terms: Review

Sialorrhea is defined as a chronic excessive flow of saliva from the mouth, often with adverse consequences for health and quality of life of patients. In addition to currently used non-drug treatment and systemic drugs, intraglandular Botulinum Neurotoxin A (BoNT/A) injections have been examined in case studies, controlled trials and clinical practice. Two pivotal Phase III trials recently led to market approval in the USA and EU for IncobotulinumtoxinA [Xeomin®, IncoBoNT/A, Clostridium botulinum neurotoxin type A (150 kD), free from complexing proteins, Merz Pharmaceuticals GmbH] for treatment of chronic sialorrhea in adults and pediatric patients. This review provides a multidisciplinary approach to discuss the current state of sialorrhea therapy as well as benefits and current limitations of BoNT/A injections. A consensus regarding treatment recommendations made available to physicians in Germany in 2022 has now been updated here for presentation to an international audience. This review provides a framework including a flow chart for patient selection, recommendations for dosing and the injection process, as well as a discussion of therapeutic goals, long-term benefits and safety aspects. This review is aimed at supporting physicians in developing multidisciplinary and individualized treatment approaches to achieve optimal benefits for patients.
Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient
Authors: Shu-Hui Wu, Ting Xiao, Dan Zhao, Ying-Hong Zeng, Ming-Fang Zhu
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: group a, case, erythropoietic protoporphyria, protoporphyrin, xeroderma pigmentosum
MeSH terms: Ferrochelatase / genetics, Protoporphyria, Erythropoietic / complications, Protoporphyria, Erythropoietic / genetics, Xeroderma Pigmentosum / complications, Xeroderma Pigmentosum / genetics, Case Reports, Asian People / genetics, China, East Asian People, Female, Frameshift Mutation, Humans, Male, Mutation, Xeroderma Pigmentosum Group A Protein / genetics, Ferrochelatase, FECH protein, human, Xeroderma Pigmentosum Group A Protein, XPA protein, human

Xeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme. Xeroderma pigmentosum-erythropoietic protoporphyria is exceedingly rare. Hereby, we firstly report a young Chinese patient of xeroderma pigmentosum Group A with erythropoietic protoporphyria carrying an XPA Met214AsnfsTer7 frameshift mutation and a homozygous splicing mutation, c.315-48T>C, in the proband's intron3 of FECH.
Case report: Incidental MALT lymphoma of the left adrenal gland mimicking a metastatic spread within durvalumab maintenance treatment in inoperable stage III non-small cell lung cancer
Authors: Lukas Käsmann, Esra Degerli, Karim El-Marouk, Farkhad Manapov
Journal: Front Oncol (2024)
Keywords: malt lymphoma, nsclc, pet/ct, durvalumab, immune-related side effect
MeSH terms: Case Reports

Durvalumab after chemotherapy in non-operable stage III non-small cell lung cancer (NSCLC) is the standard of care worldwide. We present a patient with the incidental discovery of a unilateral MALT lymphoma of the adrenal gland and adrenalitis during durvalumab maintenance treatment detected by 18F-FDG-PET/CT. We assessed the clinical and histopathological findings, radiological examinations and overall treatment. Our work emphasizes the significance of considering other differential diagnoses and the importance of multidisciplinary treatment of the findings, especially within clinical trials.
Ketamine Therapy in Complex Cases: A Cautionary Tale of Exacerbated Personality Traits and the Crucial Role of Comprehensive Follow-Up and Psychosocial Interventions
Authors: Jai Ahuja, Luba Leontieva
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

This case report examines the unexpected increase in suicidal ideation following ketamine infusion therapy in a 75-year-old female with a history of treatment-resistant depression. Despite ketamine's established efficacy in treating depression and acute suicidality, this patient's condition deteriorated posttreatment. The report delves into the patient's complex background, including psychosocial stressors, genetic predisposition to depression, and a history of personality traits that may have influenced her response to ketamine. This case underscores the importance of cautious administration of ketamine, especially in patients with personality disorders, and calls for deeper understanding and individualized treatment plans in mental health care. It is a reminder of the complexities involved in treating mental health conditions and the varying effects of treatments like ketamine on different individuals.
MHIF-MSEA: a novel model of miRNA set enrichment analysis based on multi-source heterogeneous information fusion
Authors: Jianwei Li, Xuxu Ma, Hongxin Lin, Shisheng Zhao, Bing Li, Yan Huang
Journal: Front Genet (2024)
Keywords: functional enrichment analysis, heterogeneous information fusion, mirna, mirna-mirna association network, random walk with restart

Introduction: MicroRNAs (miRNAs) are a class of non-coding RNA molecules that play a crucial role in the regulation of diverse biological processes across various organisms. Despite not encoding proteins, miRNAs have been found to have significant implications in the onset and progression of complex human diseases. Methods: Conventional methods for miRNA functional enrichment analysis have certain limitations, and we proposed a novel method called MiRNA Set Enrichment Analysis based on Multi-source Heterogeneous Information Fusion (MHIF-MSEA). Three miRNA similarity networks (miRSN-DA, miRSN-GOA, and miRSN-PPI) were constructed in MHIF-MSEA. These networks were built based on miRNA-disease association, gene ontology (GO) annotation of target genes, and protein-protein interaction of target genes, respectively. These miRNA similarity networks were fused into a single similarity network with the averaging method. This fused network served as the input for the random walk with restart algorithm, which expanded the original miRNA list. Finally, MHIF-MSEA performed enrichment analysis on the expanded list. Results and Discussion: To determine the optimal network fusion approach, three case studies were introduced: colon cancer, breast cancer, and hepatocellular carcinoma. The experimental results revealed that the miRNA-miRNA association network constructed using miRSN-DA and miRSN-GOA exhibited superior performance as the input network. Furthermore, the MHIF-MSEA model performed enrichment analysis on differentially expressed miRNAs in breast cancer and hepatocellular carcinoma. The achieved p-values were 2.17e(-75) and 1.50e(-77), and the hit rates improved by 39.01% and 44.68% compared to traditional enrichment analysis methods, respectively. These results confirm that the MHIF-MSEA method enhances the identification of enriched miRNA sets by leveraging multiple sources of heterogeneous information, leading to improved insights into the functional implications of miRNAs in complex diseases.
Case report: Persistent hypogammaglobulinemia and mixed chimerism after HLA class-II disparate-hematopoietic stem cell transplant
Authors: Melanie de Gier, Ingrid Pico-Knijnenburg, Monique M van Ostaijen-Ten Dam, Dagmar Berghuis, Frans J Smiers, Adriaan A van Beek, Hetty Jolink, Patty M Jansen, Arjan C Lankester, Mirjam van der Burg
Journal: Front Immunol (2024)
Keywords: b-cell phenotyping, b-cell receptor repertoire, hla class-ii, allogeneic hematopoietic stem-cell transplant (hsct), hypogammaglobulinemia, mixed chimerism
MeSH terms: Agammaglobulinemia / immunology, Agammaglobulinemia / therapy, Hematopoietic Stem Cell Transplantation / adverse effects, Case Reports, Adolescent, Anemia, Sickle Cell / immunology, Anemia, Sickle Cell / therapy, B-Lymphocytes / immunology, Female, HLA Antigens / genetics, HLA Antigens / immunology, Humans, Transplantation Chimera, HLA Antigens

Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative treatment for various hematological, immunological and metabolic diseases, replacing the patient's hematopoietic system with donor-derived healthy hematopoietic stem cells. HSCT can be complicated by early and late events related to impaired immunological recovery such as prolonged hypogammaglobulinemia post-HSCT. We present a 16-year-old female patient with sickle-cell disease who underwent HSCT with stem cells from a human leukocyte antigen (HLA) class-II mismatched family donor. While cellular recovery was good post-HSCT, the patient developed mixed chimerism and suffered from cervical lymphadenopathy, recurrent airway infections and cutaneous SLE. She presented with hypogammaglobulinemia and was started on immunoglobulin substitution therapy and antibiotic prophylaxis. B-cell phenotyping showed that she had increased transitional and naïve mature B cells, reduced memory B cells, and diminished marginal zone/natural effector cells. In-depth immunophenotyping and B-cell receptor repertoire sequencing ruled out an intrinsic B-cell defect by expression of activation-induced cytidine deaminase (AID), presence of somatic hypermutations and differentiation into IgG- and IgA-producing plasma cells in vitro. Immunohistochemistry and flow cytometry of lymph node tissue showed a clear block in terminal B-cell differentiation. Chimerism analysis of sorted lymph node populations showed that exclusively patient-derived B cells populated germinal centers, while only a minor fraction of follicular helper T cells was patient-derived. Given this discrepancy, we deduced that the HLA class-II disparity between patient and donor likely hinders terminal B-cell differentiation in the lymph node. This case highlights that studying disturbed cognate T-B interactions in the secondary lymphoid organs can provide unique insights when deciphering prolonged hypogammaglobulinemia post-HSCT.
A Nail in the Brain
Authors: Tze Huei Kee, Khoo Chung Lee, Adlina Abdul Rahim, Noor Khairul Binti Rasid
Journal: Cureus (2024)
Keywords: industrial injury, intracranial foreign body, nail gun, perforating eye injury, transorbital
MeSH terms: Case Reports

Transorbital penetrating brain injuries (TOPI) are rare. We report a case of industrial injury that resulted in perforating eye injury and intracranial foreign body by a nail gun. A 30-year-old man accidentally fired a nail gun onto his left eye at his construction workplace while handling the malfunctioned equipment and sustained a perforating injury of the left eye with intracranial foreign body. The misfired nail was lodged in his frontal lobe of the brain. He also suffered laceration wounds of the lateral canthus of the left eye and fractures of the left orbital floor and roof. He underwent emergency bicoronal craniotomy and removal of intracranial foreign body, followed by left eye examination under anaesthesia as well as scleral toilet and suturing. The nail was successfully removed. He recovered well with no neurological deficit and was discharged on postoperative day 5 with a Glasgow Coma Scale score of 15; however, his left eye vision remained no perception of light. Work-related eye injuries can be debilitating and are largely preventable.
Case report: Successful bronchoscopic interventional treatment of endobronchial leiomyomas
Authors: Yinfeng Wang, Yixiang Zhang, Ruirui Tong
Journal: Open Life Sci (2024)
Keywords: bronchoscopy, case report, endobronchial leiomyomas, minimally invasive intervention, pulmonary leiomyoma
MeSH terms: Case Reports

Endobronchial leiomyomas are rare benign neoplasms of the lungs that arise from the smooth muscle cells of the bronchi and bronchioles. While surgical resection is the mainstay of treatment for these tumors, bronchoscopic interventional therapies are also effective and can help preserve lung function in certain cases. A 40-year-old male patient presented with a persistent cough and sputum production for over 4 months. A chest computed tomography scan revealed nodular lesions in the lower lobe bronchus, later confirmed as an endobronchial leiomyoma. The patient refused surgical intervention and opted for minimally invasive bronchoscopic treatments, including electric snare resection, argon plasma coagulation, and balloon dilation, resulting in a successful outcome with no recurrence during follow-up. Clinicians should consider bronchoscopic interventions as a viable treatment option for endobronchial leiomyomas patients who are either ineligible for surgical resection or opt not to undergo surgery.
Vaccimel immunization is associated with enhanced response to treatment with anti-PD-1 monoclonal antibodies in cutaneous melanoma patients - a case reports study
Authors: José Mordoh, Erika Schwab, Alicia Inés Bravo, Mariana Aris, María Marcela Barrio
Journal: Front Immunol (2024)
Keywords: case report, cutaneous melanoma, immune checkpoints inhibitors, immunotherapy, vaccine
MeSH terms: Antibodies, Monoclonal / therapeutic use, Cancer Vaccines / immunology, Cancer Vaccines / therapeutic use, Melanoma, Cutaneous Malignant / immunology, Melanoma, Cutaneous Malignant / therapy, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Programmed Cell Death 1 Receptor / immunology, Skin Neoplasms / immunology, Skin Neoplasms / therapy, Case Reports, Research Support, Non-U.S. Gov't, Adjuvants, Immunologic / therapeutic use, Aged, Female, Humans, Immune Checkpoint Inhibitors / therapeutic use, Male, Middle Aged, Treatment Outcome, Adjuvants, Immunologic, Antibodies, Monoclonal, Cancer Vaccines, Immune Checkpoint Inhibitors, PDCD1 protein, human, Programmed Cell Death 1 Receptor

Cancer vaccines are gaining ground as immunotherapy options. We have previously demonstrated in cutaneous melanoma (CM) patients that adjuvant treatment with VACCIMEL, a mixture of four irradiated CM cell lines co-adjuvanted with BCG and GM-CSF, increases the cellular immune response to melanocyte differentiation antigens, cancer-testis antigens and neoantigens, with respect to basal levels. On the other hand, it is also known that treatment with anti-PD-1 monoclonal antibodies (MAbs), acting on pre-existing tumor-reactive lymphocytes, induces clinical responses in CM patients, albeit in a fraction of treated patients. A combination of both treatments would appear therefore desirable. In this paper, we describe CM patients who, having progressed even years after vaccination, were treated with anti-PD-1 MAbs. In 5/5 of such progressor patients, complete responses were obtained which lasted between 3 and 65+ months. Three of the patients remain disease-free and two recurred. One of the patients passed away after a recurrence of brain metastases. We suggest that clonally expanded reactive lymphocytes induced by VACCIMEL partially remain as memory cells, which may be recalled after tumor recurrence and may foster ulterior activity of anti-PD-1 MAbs.
Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene
Authors: Lorena Wyniger, Nicole Beuret, Jonas Rutishauser, Eleonora Seelig
Journal: JCEM Case Rep (2022)
Keywords: avp, avp deficiency, copeptin, hereditary central diabetes insipidus, mutation
MeSH terms: Case Reports

Hereditary central diabetes insipidus (CDI) is a genetic disorder characterized by polydipsia and polyuria. Most known mutations are located in the arginine-vasopressin (AVP) gene. Here, we describe a Swiss family with an autosomal dominant mutation in the AVP gene region encoding for the carrier protein neurophysin II (P55R). In addition, we discuss the algorithm for diagnosing and treating patients with hereditary CDI based on this Swiss family.
Primary Ductal Her-2 Positive Adenocarcinoma of Salivary Gland: A Long Follow-Up Case Report and Review of the Literature
Authors: C L Deantoni, M Midulla, A Mirabile, A Chiara, R Lucchini, L Giannini, M Torrisi, A Fodor, N G Di Muzio, I Dell'Oca
Journal: Case Rep Ophthalmol Med (2024)
MeSH terms: Case Reports

Background: Epithelial tumors of lacrimal glands are rare and primary ductal adenocarcinoma of the lacrimal gland accounts for only 2% of all epithelial lacrimal gland tumors. Considering its rarity and lack of uniform diagnostic criteria, treatment protocols are not well defined. In this study, we describe a Her-2 positive case and review previously reported cases. Methods: In 2012, a 42-year-old woman affected by primary ductal adenocarcinoma of the lacrimal gland was treated with transpalpebral anterior orbitotomy and adjuvant radiotherapy. In July 2013, she presented local relapse and she underwent orbital exenteration. In November 2013, for neck nodal progression, seven cycles of chemotherapy (cisplatin and epirubicin) associated with a humanized monoclonal antibody-targeting HER 2 therapy (trastuzumab and pertuzumab) were performed, with a marked response rate. Then, she underwent total parotidectomy with right neck lymphadenectomy and adjuvant hadrontherapy. Results: Nine years later (113 months) after treatment completion, the patient was alive without disease and with acceptable toxicity. Conclusions: In primary ductal adenocarcinoma of the lacrimal gland, early diagnosis and multimodal treatments could be crucial, considering its often aggressive tendency. Considering the lack of treatment guidelines, case report recording can be useful in patient management.
Case Report: Dynamic overlap of melanoma, sarcoidosis, and targeted therapy for BRAF-mutant melanoma
Authors: Nakul Dar, Sarah E Gradecki, Elizabeth M Gaughan
Journal: Front Oncol (2023)
Keywords: braf inhibitor, mek inhibitor, metastatic melanoma, sarcoid, sarcoid-like, targeted therapy
MeSH terms: Case Reports

Targeted therapies, including BRAF and MEK inhibitors, are valuable treatment options for patients with unresectable or metastatic BRAF V600-mutant melanoma. With the improvement in survival seen with modern melanoma therapeutics, clinicians are learning the variable patterns associated with extended clinical courses. Sarcoidosis is characterized by non-caseating granulomatous inflammation of unknown etiology, often presenting with cutaneous, lung, or lymph node involvement. There is a known association between sarcoidosis and melanoma, and sarcoidosis is increasingly seen and described in the setting of anti-melanoma therapy. The challenge for clinicians is to differentiate between sarcoid-related and malignancy-related findings, which may follow a variable course over years. We present two cases of BRAF and MEK inhibitor-related sarcoidosis in patients with melanoma and review the literature. The dynamic nature of the clinical and radiographic findings impacted patient management and clinical decisions for years of their treatment course.
Treatment of Subcorneal Pustular Dermatosis without Dapsone: A Case Report and Review of the Literature
Authors: Lindsey J Wanberg, Brittney Schultz, Amrita Goyal
Journal: Case Rep Dermatol Med (2024)
MeSH terms: Case Reports

Subcorneal pustular dermatosis (SPD) is a rare neutrophilic dermatosis characterized by pustules on the trunk and intertriginous areas. While oral dapsone is the first-line treatment for SPD, alternative options are necessary for patients with glucose-6-phosphate dehydrogenase deficiency, drug hypersensitivity reactions, or refractory disease. To date, no consensus exists regarding next-best agents for SPD. In this report, we present a patient with significant SPD who developed dapsone hypersensitivity syndrome and then was successfully treated with colchicine and adalimumab. We propose that colchicine should be considered as a second-line treatment for SPD and present a therapeutic algorithm for clinicians to utilize when patients are not candidates for dapsone, have side effects requiring drug discontinuation, or have refractory disease.
Parathyroid Paranoia: Unveiling Psychosis in Hyperparathyroidism
Authors: Rachael J Murphy, Subin Paul, Ralph Primelo
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

Primary hyperparathyroidism (PHPT) and subsequent hypercalcemia have been reported to be associated with psychosis. Here we report the case of a 28-year-old cannabis using male with his first contact with psychiatric care because of mood instability, bizarre behavior, and poor ability to carry out activities of daily living. Hypercalcemia was identified, and a subsequent endocrine workup confirmed PHPT. After parathyroidectomy, there was no longer any need for antipsychotic or other psychotropic medications; the report emphasizes the importance of considering organic causes, such as hyperparathyroidism, in patients presenting with psychotic-like symptoms, including in the setting of substance use disorder. Prompt recognition and appropriate management of the underlying condition are crucial for optimizing patient outcomes.