OpenMed/multicare-articles huggingface dataset:
Autoantibodies against eukaryotic translation elongation factor 1 delta in two patients with autoimmune cerebellar ataxia
Authors: Liyuan Guo, Haitao Ren, Siyuan Fan, Xingchen Chao, Mange Liu, Hongzhi Guan, Jing Wang
Journal: Front Immunol (2024)
Keywords: anti-eef1d antibody, autoimmune, biomarker, cerebellar ataxia, novel autoantibody
MeSH terms: Autoantibodies, Cerebellar Ataxia / diagnosis, Cerebellar Ataxia / metabolism, Cerebellar Ataxia / pathology, Case Reports, Research Support, Non-U.S. Gov't, Comment, Adult, Biomarkers, Female, Humans, Immunotherapy, Middle Aged, Peptide Elongation Factor 1, Autoantibodies, Peptide Elongation Factor 1, Biomarkers, EEF1D protein, human

Background:
Autoantibodies are useful biomarkers for the early detection and diagnosis of autoimmune cerebellar ataxia (ACA).
Objective:
To identify novel autoantibody candidates in ACA patients.
Methods:
Patients with cerebellar ataxia of unknown cause were recruited from July 2018 to February 2023. Anti-neural autoantibodies in patient samples were detected by tissue-based indirect immunofluorescence assay (TBA) on rat cerebellum sections. TBA-positive samples were further screened for well-established anti-neural autoantibodies using commercial kits. Tissue-immunoprecipitation (TIP) and subsequent mass spectrometric (MS) analysis were used to explore the target antigens of autoantibodies in samples that were TBA-positive but negative for known autoantibodies. The specific binding between autoantibodies and the identified target antigen was confirmed by neutralization experiments, recombinant cell-based indirect immunofluorescence assay (CBA), and western blotting experiments.
Results:
The eukaryotic translation elongation factor 1 delta (EEF1D) protein was identified as a target antigen of autoantibodies in samples from a 43-year-old female ACA patient, while the specific binding of autoantibodies and EEF1D was confirmed by subsequent experiments. A second anti-EEF1D autoantibody-positive ACA patient, a 59-year-old female, was detected in simultaneous screening. The main clinical manifestations in each of the two patients were cerebellar syndrome, such as unsteady walking and limb ataxia. Both patients received immunotherapy, including corticosteroids, intravenous immunoglobulin, and mycophenolate mofetil. Their outcomes provided evidence to support the effectiveness of immunotherapy, but the cerebellar atrophy that occurred before treatment may be irreversible.
Conclusion:
In the current study, we identified anti-EEF1D autoantibody as a novel autoantibody candidate in ACA. Its pathological roles and diagnostic value need to be further verified in larger-scale studies.
Nuss procedure for the treatment of pectus excavatum with dyspnea following oropharyngeal cancer surgery: a case report
Authors: Kyohei Masai, Taketo Nakai, Yu Okubo, Kaoru Kaseda, Tomoyuki Hishida, Keisuke Asakura
Journal: J Surg Case Rep (2024)
Keywords: bronchial stenosis, cardiopulmonary dysfunction, pectus excavatum, tracheal deviation
MeSH terms: Case Reports

Pectus excavatum (PE) causes cardiopulmonary dysfunction depending on the degree and form of the depression. The patient was a 74-year-old woman with a history of PE. Fourteen years ago, a total glossolaryngectomy was performed for oropharyngeal cancer. Two years later, the patient gradually experienced difficulty in breathing. Computed tomography (CT) revealed severe PE and right main bronchial stenosis. We performed a Nuss procedure for PE repair to surgically release the stenosis of the right main bronchus. Postoperative chest CT showed improvement in the sternal depression and right main bronchial stenosis. Furthermore, shortness of breath was relieved postoperatively. Oropharyngeal cancer surgery may cause tracheal support disruption, leading to leftward shift and severe stenosis of the right main bronchus due to sternum depression. This is an important report regarding respiratory distress caused by a combination of PE and post-oropharyngeal cancer surgery.
Case report: Sustained remission after combined sintilimab, anti-VEGF therapy, and chemotherapy in a patient with non-small cell lung cancer harboring acquired EGFR 19Del/T790M/ cis-C797S mutation resistance
Authors: Wanming He, Lihua Tong, Wen Yang, Yanling Yuan, Yu Li, Wubing Tang
Journal: Front Oncol (2024)
Keywords: anti-vascular endothelial growth factor therapy, growth factor receptor, non-small cell lung cancer, programmed cell death 1 inhibitor, tyrosine kinase inhibitors
MeSH terms: Case Reports

Third-generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are highly effective against tumors harboring the T790M mutation. However, patients treated with these inhibitors ultimately develop resistance, and the most common mechanism is the emergence of the EGFR C797S mutation. Few treatment regimens have been reported for this condition. In this report, we present a successful combination treatment with the programmed cell death 1 (PD-1) inhibitor sintilimab, anti-vascular endothelial growth factor (VEGF) therapy, and chemotherapy with pemetrexed and cisplatin in a patient with non-small cell lung cancer (NSCLC) who developed acquired resistance with EGFR 19 exon deletion (19Del)/T790M/cis-C797S mutation following progression with ametinib therapy. This regimen was well tolerated, and the patient has remained progression-free for 15 months. Our case provides clinical evidence that the combination of PD-1 inhibitor, anti-VEGF therapy, and chemotherapy may be an efficacious therapeutic strategy for NSCLC patients with acquired EGFR 19Del/T790M/cis-C797S mutation resistance following progression with EGFR TKI therapy.
Anesthetic management of fetal pulmonary valvuloplasty: A case report
Authors: Xiaofeng Lei, Xuezhu Huang
Journal: Open Med (Wars) (2023)
Keywords: anesthesia for fetal surgery, combined spinal epidural anesthesia, fetal surgery, intrauterine surgery, pulmonary valve stenosis
MeSH terms: Case Reports

Anesthesia management of fetal pulmonary valvuloplasty (FPV) is difficult, requiring careful consideration of both the mother and the fetus. Few reports have been published on specific anesthesia implementation and intraoperative management. We report the case of a pregnant woman who was treated with FPV under combined spinal epidural anesthesia (CSEA) with dexmedetomidine in the second trimester of pregnancy. Meanwhile, the application of fetal anesthesia through the umbilical vein was optimal. During the operation, the vital signs of the pregnant woman were stable with no complications and the fetal bradycardia was corrected by intracardiac injection of epinephrine. Four months postoperatively, a boy was born alive by full-term transvaginal delivery. CSEA may be a suitable anesthesia method for FPV surgery. Nevertheless, maternal hemodynamic stability maintenance, effective fetal anesthesia, and timely fetal resuscitation were necessary.
Pancreatic ectopic thyroid tissue: A case report and analysis of literature
Authors: Hai-Lan Zheng, Xiao Lin, Ming-Jian Zhang, Guo-Hua Zhang
Journal: Open Life Sci (2023)
Keywords: abdominal computed tomography, ectopic thyroid, pancreas
MeSH terms: Case Reports

Ectopic thyroid is a rare malformation induced by a migration defect in the developing gland during embryogenesis. In 90% of cases, the ectopic thyroid is located in the lingual region, whereas it is extremely rare in the abdominal cavity, particularly in the pancreas. A 50-year-old female patient presented to the Taizhou First People's Hospital with a complaint of recurrent mid-lower abdominal pain and diarrhea for approximately a month. The abdominal computed tomography scan revealed a space-occupying lesion with abundant blood supply in the head of the pancreas during the consultation. This led to the suspicion of a neuroendocrine tumor. The doctor considered that this lesion in the head of the pancreas could be responsible for the patient's incontinence. A laparoscopic pancreaticoduodenectomy was performed after relevant tests were undertaken and contraindications were ruled out. The patient was diagnosed with ectopic thyroid of the pancreas through postoperative pathology. Ectopic thyroid can be considered in middle-aged and elderly women who present with a mass with abundant blood supply and an unknown diagnosis. Subsequent treatments should be decided after fine-needle aspiration cytology.
Disseminated Anaplastic Lymphoma Kinase (ALK)-Positive T-cell Lymphoma Involving the Uterus and Cervix: A Case Report
Authors: Erin J Yang, Ahmed Sabri, Seifeldin Awad, Lesley B Conrad, David Cantu
Journal: Cureus (2024)
Keywords: abnormal uterine bleeding, adult t-cell lymphoma, alk-positive, disseminated disease, gynecology, immunohistochemistry, non-hodgins lymphoma, rare cancers, rare metastases, t-cell lymphoma
MeSH terms: Case Reports

Primary or secondary non-Hodgkin lymphomas (NHLs) involving the female gynecologic tract are rare. T-cell subtypes are further rare and portend a worse prognosis. We present a case of a 23-year-old female presenting with a cervical mass accompanied by constitutional symptoms and abnormal vaginal bleeding. Immunohistochemistry studies revealed the presence of disseminated T-cell non-Hodgkin lymphoma that was anaplastic lymphoma kinase (ALK)-positive. The patient demonstrated a complete response to systemic chemotherapy initially and again after the relapse of the disease one year after diagnosis. To our knowledge, this is the first case of an ALK-positive T-cell lymphoma with secondary involvement of the uterus and cervix; all previously published cases of this histologic subtype in the gynecologic tract describe primary disease of the vagina. This case emphasizes the importance of immunohistochemistry studies inclusive of T-cell and B-cell markers when evaluating biopsies from cervical tumors to render the appropriate diagnosis and guide systemic therapy.
Kounis and Takotsubo, Two Syndromes Bound by Adrenaline: The "ATAK" Complex
Authors: Ravi Vazirani Ballesteros, Juan Carlos Gómez Polo, Carmen Olmos, Isidre Vilacosta
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

Background. The term "ATAK" complex has been coined by the association of adrenaline, takotsubo, anaphylaxis and Kounis syndrome. We present an uncommon case of an "ATAK" complex with biphasic onset and a midventricular takotsubo pattern. Case Summary. A 50-year-old male was brought to the emergency department in anaphylactic shock. He had progressive exertional dyspnea and angina for the past 2 days. The intravenous administration of adrenaline for anaphylactic shock resulted in chest pain and concerning ECG repolarization findings. The patient was immediately transferred to the catheterization laboratory. Coronary angiography showed a midventricular ballooning pattern without significant coronary stenosis, with subsequent recovery during hospitalization, suggestive of takotsubo syndrome. The allergy tests remained inconclusive for the trigger. Discussion. Adrenaline-mediated stress is the link between these two entities, in which Kounis syndrome itself or anaphylactic shock treatment (adrenaline) are potential triggers for takotsubo syndrome.
In-house three-dimensional printing for surgical planning: learning curve from a case series of temporomandibular joint and related disorders
Authors: Miguel R Godinho, Lisa A Mestrinho
Journal: Front Vet Sci (2024)
Keywords: 3d printing, computer-aided surgical planning, open-source software, oromaxillofacial surgery, stereolithography, surgical cutting guide, temporomandibular joint ankylosis, workflow

Three-dimensional (3D) printed models can improve the understanding of the structural anatomic changes in cases of temporomandibular joint ankylosis and pseudoankylosis leading to closed jaw locking. Their use in pre-surgical planning and intraoperative guidance has been reported, contributing to the predictability and success of these surgery procedures, which can be quite complex, especially in small animal patients. The use and production of 3D tools and models remain challenging and are so far limited to institutions with high (economical and human) resources. This study aims to propose simplified workflows using open-source software to facilitate an in-house 3D printing process. To illustrate this, three cases of temporomandibular joint ankylosis and one of pseudoankylosis were reviewed, where in-house 3D printed models were used for client communication and surgical management. The 3D models were segmented from computed tomography and printed via stereolithography. They were used to support discussion with clients (n = 4), to allow surgeons to pre-surgical plan and practice (n = 4) and for intraoperative guidance during surgery (n = 2). Surgical cutting guides were produced in one case to improve precision and define more accurately osteotomy lines. It is essential to consider the initial time and financial investment required for establishing an in-house 3D printing production, particularly when there is a need to produce biocompatible tools, such as surgical cutting guides. However, efficient and streamlined workflows encourage the integration of this technology, by accelerating the printing process and reducing the steep learning curves, while open-source software enhances accessibility to these resources.
Case report: Misdiagnosis of primary mucinous cystadenoma of the testicle by ultrasound
Authors: Linlin Zhang, Jianyuan Xuan, Manxi Li, Mei Zhang, Yu Song, Ziang Pan, Bo Fan, Lin Lu, Hongyan Zhou, Yang Li
Journal: Front Oncol (2023)
Keywords: cystadenoma, diagnostic errors, mucinous, testicle, ultrasound
MeSH terms: Case Reports

Testicular mucinous cystadenoma is a rare benign testicular tumor with the characteristics of being potentially malignant and showing atypical clinical symptoms; this article reports a case of a primary testicular mucinous cystadenoma misdiagnosed as testicular teratoma by ultrasound. A 69-year-old man was admitted to the hospital because of a 1-year history of left-sided testicular enlargement with scrotal swelling and no obvious abnormalities on laboratory tests. Ultrasound examination revealed solid-mass lesions in the left testicle, suggesting a high probability of teratoma, and contrast-enhanced magnetic resonance imaging (MRI) examination suggested an increased possibility of epidermoid cysts. Contrast-enhanced computed tomography (CT) and contrast-enhanced MRI of the preoperative abdomen and pelvis showed no other primary adenocarcinoma. Doctors performed radical resection of the left testicle. The postoperative pathological diagnosis was mucinous cystadenoma, and calcification as well as partially mildly atypical epithelial cells were discovered. Furthermore, there were no neoplastic lesions in the epididymis or spermatic cord. No metastatic lesions were found after 6 months postoperative follow-up, and the patient's prognosis remains good.
Treatment for Severe Class II Open Bite Using a Bonded Hyrax Expander, IZC Mini-Implants, and MEAW Technique in an Adolescent Patient
Authors: Mohammad Farahani, Reza Morvaridi Farimani, Fatemeh Eskandarloo
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

This case report describes the successful 3D treatment of a patient with a narrow maxilla and a severe class II open bite using a combination of a bonded hyrax expander, infrazygomatic crest mini-implants, and the multiloop edgewise arch-wire (MEAW) technique. A 14-year-old female with a thumb-sucking habit in childhood, presented with a severe open bite, a convex profile, and an obtuse nasolabial angle. Diagnosis revealed a skeletal Class II open bite with moderate crowding in the maxillary and mild crowding in the mandibular arch. Treatment objectives included eliminating the open bite, achieving normal overbite and overjet, and improving upper incisor visibility. Treatment involved the use of a bonded rapid palatal expansion device, mini-implants for maxillary intrusion, fixed appliances, vertical elastics, and a MEAW. Treatment results showed resolution of the open bite, improvement in overbite and overjet, achievement of Class I molar and canine relationships, and improved upper incisors visibility. Fixed appliances were used for the whole 22-month therapy period, and post-treatment records demonstrated that the treatment's objectives were met.
Sequential autologous CAR-T and allogeneic CAR-T therapy successfully treats central nervous system involvement relapsed/refractory ALL: a case report and literature review
Authors: Yifan Liu, Yanfen Li, Zhangyu Yu, Rongrong Wang, Yu Jing
Journal: Front Oncol (2024)
Keywords: acute lymphoblastic leukemia, car-t, central nervous system, neurotoxicity, refractory and relapsed
MeSH terms: Case Reports

Background:
The central nervous system (CNS) is the most common site of extramedullary invasion in acute lymphoblastic leukemia (ALL), and involvement of the CNS is often associated with relapse, refractory disease, and poor prognosis. Chimeric antigen receptor-T (CAR-T) cell therapy, a promising modality in cancer immunotherapy, has demonstrated significant advantages in the treatment of hematological malignancies. However, due to associated adverse reactions such as nervous system toxicity, the safety and efficacy of CAR-T cell therapy in treating CNSL remains controversial, with limited reports available.
Case report:
Here, we present the case of a patient with confirmed B-ALL who experienced relapse in both bone marrow (BM) and cerebrospinal fluid (CSF) despite multiple cycles of chemotherapy and intrathecal injections. The infusion of autologous CD19 CAR-T cells resulted in complete remission (CR) in both BM and CSF for 40 days. However, the patient later experienced a relapse in the bone marrow. Subsequently, allogeneic CD19 CAR-T cells derived from her brother were infused, leading to another achievement of CR in BM. Significantly, only grade 1 cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS) events were detected during the treatment period and showed improvement with symptomatic management. During subsequent follow-up, the patient achieved a disease-free survival of 5 months and was successfully bridged to hematopoietic stem cell transplantation.
Conclusion:
Our study provides support for the argument that CNS involvement should not be deemed an absolute contraindication to CAR-T cell therapy. With the implementation of suitable management and treatment strategies, CAR-T therapy can proficiently target tumor cells within the CNS. This treatment option may be particularly beneficial for relapsed or refractory patients, as well as those with central nervous system involvement who have shown limited response to conventional therapies. Additionally, CAR-T cell therapy may serve as a valuable bridge to allogeneic hematopoietic stem cell transplantation (allo-HSCT) in these patients.
Case report: Shingles-associated probable Bickerstaff brainstem encephalitis with IgM anti-sulfatide positivity
Authors: Xiaoxue Fu, Qianli Zhan, Linjie Zhang, Xiaoyan Tian
Journal: Front Immunol (2024)
Keywords: bickerstaff brainstem encephalitis, anti-sulfatide antibodies, brainstem encephalitis, herpes zoster, secondary autoimmune response
MeSH terms: Autoantibodies / blood, Autoantibodies / immunology, Brain Stem / immunology, Encephalitis / diagnosis, Encephalitis / drug therapy, Encephalitis / immunology, Immunoglobulin M / blood, Immunoglobulin M / immunology, Sulfoglycosphingolipids / immunology, Case Reports, Research Support, Non-U.S. Gov't, Aged, 80 and over, Female, Glucocorticoids / therapeutic use, Humans, Magnetic Resonance Imaging, Immunoglobulin M, Autoantibodies, Sulfoglycosphingolipids, Glucocorticoids

Background:
Bickerstaff brainstem encephalitis (BBE) is a rare disease considered caused by acute demyelination of the brainstem, most often resulting from secondary autoimmune responses. To our knowledge, this is the first probable case report of shingles-associated BBE with anti-sulfatide IgM positivity.
Case presentation:
We report the case of an 83-year-old woman with symptoms of progressive limb weakness, difficulty swallowing food, and disturbed consciousness that occurred 4 weeks following herpes zoster infection. Autoimmune anti-sulfatide antibodies were positive and fluid-attenuated inversion recovery (FLAIR) sequences revealed clear high signal intensity in pons and bilateral thalamus. Our patient's condition improved markedly with glucocorticoid treatment. After 2 months of treatment, our patient was fully recovered. We considered that for her case, BBE is the most appropriate diagnosis.
Conclusions:
We emphasize the importance of a careful medical history and assessment of clinical symptoms, performing MRI, testing autoimmune antibodies for rapid diagnosis, and ruling out differential diagnoses. Further studies involving more patients with BBE with IgM anti-sulfatide autoantibodies will increase the understanding of the clinical characteristics and advance the diagnosis and treatment of this syndrome. Meanwhile, it is crucial for dermatologists to know about this severe neurological complication following shingles.
Systemic Lupus Erythematosus and Antiphospholipid Syndrome Accompanied by Mixed-Type Autoimmune Hemolytic Anemia
Authors: Eiji Suzuki, Takashi Kanno, Yurie Saito, Takuro Shimbo
Journal: Case Rep Rheumatol (2023)
MeSH terms: Case Reports

Systemic lupus erythematosus (SLE) is an autoimmune disease that leads to a wide spectrum of clinical and immunological abnormalities. Hematologic abnormalities are an important manifestation of SLE. The incidence of autoimmune hemolytic anemia (AIHA) has been reported in approximately 10% of patients with SLE. Among them, mixed-type AIHA, which is caused by warm autoantibodies and cold hemagglutinin, is relatively rarely reported. We report the case of a 72-year-old woman, who was admitted to our hospital due to shortness of breath, jaundice, and severe anemia, with SLE and antiphospholipid syndrome (APS) complicated by mixed-type AIHA. Laboratory data revealed severe hemolytic anemia (low hemoglobin, high indirect bilirubin, and high lactate dehydrogenase levels), low complement levels, and the presence of antinuclear antibodies and lupus anticoagulant. Imaging results revealed pleural effusion and pulmonary embolisms, and echocardiogram revealed high estimated right ventricular pressure. She was diagnosed with SLE and APS complicated by mixed-type AIHA based on positive direct antiglobulin and cold agglutinin tests (thermal amplitude ≥30°C). As mixed-type AIHA is a severe and chronic condition, she was administered potent treatments with immunosuppressants. However, because she was a carrier of human T-cell leukemia virus type-1, only a moderate amount of prednisolone was administered. She refused to take warfarin. Fortunately, her symptoms and laboratory abnormalities improved after prednisolone administration, and no relapse occurred after tapering the prednisolone dose. Although mixed-type AIHA is characterized by fewer clinical symptoms than cold agglutinin disease, hemolytic anemia is more severe and chronic. Therefore, it is important to confirm the presence of cold agglutinins, which are active at ≥30°C in patients with SLE and warm AIHA. In addition, it is important to consider that AIHA is associated with thromboembolism, and patients with lupus anticoagulant or anticardiolipin antibodies having a history of AIHA are at a high risk of developing thrombosis.