OpenMed/multicare-articles huggingface dataset:
Recurrent Gallbladder Carcinoma With pMMR/MSS Achieved a Complete Response Following Camrelizumab Combined With Apatinib: A Case Report
Authors: Liting Zhong, Xiaoyu Liu, Zelei Li, Xuebing Zhang, Yuli Wang, Weiwei Peng
Journal: Front Oncol (2022)
Keywords: pd-1 blockade, anti-angiogenic therapy, case report, gallbladder carcinoma, pmmr/mss
MeSH terms: Case Reports

Gallbladder carcinoma (GBC) with proficient mismatch repair (pMMR)/microsatellite stable (MSS) is associated with limited response to programmed death-1 (PD-1) inhibitor monotherapy. Limited data of PD-1 blockade combined with anti-angiogenic therapy in GBC are reported. One recurrent GBC patient with pMMR/MSS was treated with camrelizumab plus apatinib. After 4 cycles of combination therapy, the patient achieved a durable complete response with manageable toxicity. The next-generation sequencing and immunohistochemistry analysis showed that tumor mutation burden (TMB) was 7.26 mutants/Mb and PD-L1 expression was 10% (tumor proportion score) and 20% (immune proportion score). This case suggests that camrelizumab in combination with apatinib may be an effective treatment option for GBC patients with pMMR/MSS status, who have moderate expression of TMB and PD-L1. Additionally, TMB and PD-L1 expression may serve as potential biomarkers for predicting PD-1 inhibitor response of GBC. Furthermore, this needs to be verified in future studies.
Case Report: Middle lobe syndrome: a rare presentation in eosinophilic granulomatosis with polyangiitis
Authors: Beatrice Maranini, Ippolito Guzzinati, Gian Luca Casoni, Maria Ballotta, Andrea Lo Monaco, Marcello Govoni
Journal: Front Immunol (2023)
Keywords: churg–strauss, egpa, asthma, eosinophilic granulomatosis with polyangiitis, middle lobe syndrome
MeSH terms: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis, Asthma, Churg-Strauss Syndrome / complications, Churg-Strauss Syndrome / diagnosis, Churg-Strauss Syndrome / drug therapy, Granulomatosis with Polyangiitis / complications, Granulomatosis with Polyangiitis / diagnosis, Granulomatosis with Polyangiitis / drug therapy, Leukocyte Disorders, Middle Lobe Syndrome, Pulmonary Atelectasis, Case Reports, Research Support, Non-U.S. Gov't, Antibodies, Antineutrophil Cytoplasmic, Constriction, Pathologic, Female, Humans, Middle Aged, Antibodies, Antineutrophil Cytoplasmic

Background:
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of disorders characterized by necrotizing inflammation of small- and medium-sized blood vessels and the presence of circulating ANCA. Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic ANCA-associated vasculitis, characterized by peripheral eosinophilia, neuropathy, palpable purpuras or petechiae, renal and cardiac involvement, sinusitis, asthma, and transient pulmonary infiltrates. Middle lobe syndrome (MLS) is defined as recurrent or chronic atelectasis of the right middle lobe of the lung, and it is a potential complication of asthma.
Case presentation:
Herein, we describe a case of MLS in a 51-year-old woman, never-smoker, affected by EGPA, presenting exclusively with leukocytosis and elevated concentrations of acute-phase proteins, without any respiratory symptom, cough, or hemoptysis. Chest computed tomography (CT) imaging documented complete atelectasis of the middle lobe, together with complete obstruction of lobar bronchial branch origin. Fiberoptic bronchoscopy (FOB) revealed complete stenosis of the middle lobar bronchus origin, thus confirming the diagnosis of MLS, along with distal left main bronchus stenosis. Bronchoalveolar lavage (BAL) did not detect any infection. Bronchial biopsies included plasma cells, neutrophil infiltrates, only isolated eosinophils, and no granulomas, providing the hypothesis of vasculitic acute involvement less likely. First-line agents directed towards optimizing pulmonary function (mucolytics, bronchodilators, and antibiotic course) were therefore employed. However, the patient did not respond to conservative treatment; hence, endoscopic management of airway obstruction was performed, with chest CT documenting resolution of middle lobe atelectasis.
Conclusion:
To the best of our knowledge, this is the first detailed description of MLS in EGPA completely resolved through FOB. Identification of MLS in EGPA appears essential as prognosis, longitudinal management, and treatment options may differ from other pulmonary involvement in AAV patients.
Neutrophilia with subclinical Cushing's disease: A case report and literature review
Authors: Yan Zhang, Xiaoxi Lin, Fei Liu, Songtao Shou, Heng Jin
Journal: Open Life Sci (2023)
Keywords: case report, leukocytosis, pituitary adenoma, silent corticotropin adenomas, subclinical cushing's disease
MeSH terms: Case Reports

The increase in the level of neutrophils following subclinical Cushing's disease is an uncommon clinical phenomenon that is characterized by insignificant biochemical or clinical evidence of hypercortisolism. In this study, we reported a 37-year-old female patient who presented with palpitations and fatigue, and showed increased neutrophils that were unaffected by anti-infection therapy. The patient was suspected of having a urinary tract infection because of occasionally with urinary frequency, urgency, increased procalcitonin, leukocytosis, and an increased proportion of neutrophils. The ineffectiveness of anti-infection therapy ruled out the possibility of urinary tract infection. Further examination of the bone marrow excluded the possibility of blood disease. However, the levels of blood cortisol and adrenocorticotropic hormone (ACTH) increased, and a magnetic resonance imaging examination revealed lesions in the sphenoidal sinus and sella area of the sphenoidal bone, which confirmed the relationship between increased glucocorticoids and increased neutrophils. This was further confirmed by follow-up surgery and pathological examination, which revealed silent corticotropin adenomas, which are characterized by the lack of biochemical or clinical evidence of hypercortisolism with positive immunostaining for ACTH.
Use of Prazosin for Pediatric Post-Traumatic Stress Disorder With Nightmares and/or Sleep Disorder: Case Series of 18 Patients Prospectively Assessed
Authors: Vladimir Ferrafiat, Maryam Soleimani, Boris Chaumette, Audrey Martinez, Jean-Marc Guilé, Brooks Keeshin, Priscille Gerardin
Journal: Front Psychiatry (2020)
Keywords: nightmares, post-traumatic stress disorder, prazosin, sleep disorder, youth

Objectives:
Few studies have investigated pharmacologic treatment for pediatric post-traumatic stress disorder (PTSD). Prazosin, an alpha-1 adrenergic receptor antagonist, has been studied and demonstrated to be efficacious in an adult population for PTSD related sleep disturbances; however, in the pediatric population, data is limited to case reports and retrospective case series. This study prospectively assessed the safety and effects of Prazosin on PTSD symptoms in a pediatric sample.
Methods:
Since 2016, 18 patients with PSTD under the age of 15 admitted in a child and adolescent psychiatric unit were challenged with prazosin as part of a treatment protocol. PTSD symptoms and adverse effects were collected weekly and prospectively assessed each month with validated clinical scales. All data were retrospectively analyzed. This treatment protocol and the evaluation of clinical data were approved by our Ethical committee for research on preexisting data at the University Teaching Hospital of Rouen.
Results:
Among the 18 patients (10 girls and 8 boys), 13 (72%) had experienced sexual abuse and 5 (28%) family violence. After 1 month of treatment with a mean prazosin dose of 2.16 ( ± 0.6) mg/day, the CGI-S score significantly decreased from 5.3 ( ± 0.9) to 2.9 ( ± 0.7) (improvement of 43%). The mean total UCLA-PTSD-RI score significantly decreased 11.4 points ( ± 5.4) during the first week and 37.9 ( ± 16) during the first month, leading to an improvement of 20% and 67%, respectively. The improvement was significant irrespective of trauma exposure or sex. No adverse effects were reported except for one patient (hypotension).
Conclusion:
Consistent with prior case reports and retrospective reviews, our retrospective analysis of data prospectively and systematically assessed among 18 patients suggests that prazosin is well-tolerated and associated with improvement in symptoms for pediatric PTSD.
Unusual presentation of acute annular urticaria: a case report
Authors: Gilles Guerrier, Jean-Marc Daronat, Roger Deltour
Journal: Case Rep Dermatol Med (2011)
MeSH terms: Case Reports

Acute urticarial lesions may display central clearing with ecchymotic or haemorrhagic hue, often misdiagnosed as erythema multiforme, serum-sickness-like reactions, or urticarial vasculitis. We report a case of acute annular urticaria with unusual presentation occurring in a 20-month-old child to emphasize the distinctive morphologic manifestations in a single disease. Clinicians who care for children should be able to differentiate acute urticaria from its clinical mimics. A directed history and physical examination can reliably orientate necessary diagnostic testing and allow for appropriate treatment.
Chronic Granulomatous Disease First Diagnosed in Adulthood Presenting With Spinal Cord Infection
Authors: Philipp Schwenkenbecher, Alexandra Neyazi, Frank Donnerstag, Felix C Ringshausen, Roland Jacobs, Matthias Stoll, Philip Kirschner, Florian Peter Länger, Emil Valizada, Stefan Gingele, Florian Wegner, Kurt-Wolfram Sühs, Martin Stangel, Thomas Skripuletz
Journal: Front Immunol (2018)
Keywords: cerebrospinal fluid, chronic granulomatous disease, immunodeficiency, infectious diseases, spinal cord diseases
MeSH terms: Granulomatous Disease, Chronic / diagnosis, Myelitis / diagnosis, Case Reports, Research Support, Non-U.S. Gov't, Adult, Biomarkers, Delayed Diagnosis, Diagnosis, Differential, Fatal Outcome, Humans, Immunohistochemistry, Magnetic Resonance Imaging, Myelitis / etiology, Tomography, X-Ray Computed, Biomarkers

Chronic granulomatous disease (CGD) is a rare genetic immunodeficiency, which is characterized by recurrent severe bacterial and fungal infections caused by a defect in phagocytic cells due to loss of superoxide production. The disease usually manifests within the first years of life. Early diagnosis allows therapeutic intervention to improve the limited life expectancy. Nevertheless, only half of the patients exceed the age of 25. Here, we present the case of a 41-year old female patient who presented with an extensive spinal cord infection and atypical pneumonia mimicking tuberculosis. The medical history with recurrent granulomatous infections and microbiological findings with multiple unusual opportunistic pathogens was the key to the diagnosis of CGD, which is exceptionally rare first diagnosed in patients in the fifth decade of life. The late diagnosis in this case was likely due to the lack of knowledge of the disease by the treating teams before but not because the patient did not have typical CGD infections along her life. The extensive progressive developing granulomas in our patient with fatal outcome raise the question of early immunosuppressive therapy in addition to anti-infectious treatment. We recommend appropriate CGD diagnostics in adult patients with unclear granulomatous diseases of the nervous system.
Emphysematous cholecystitis in a patient with porcelain gallbladder
Authors: Vithya Vera, Abhimanyu Sharma, Adam T Townson, Qasim Azeem, Yogeshkumar Malam, John Mathews
Journal: J Surg Case Rep (2023)
MeSH terms: Case Reports

Our case uniquely presents a patient with two rare gallbladder disease entities occurring simultaneously. The patient presented to hospital with abdominal pain and was subsequently diagnosed with emphysematous cholecystitis and porcelain gallbladder. After initial conservative management failed, cholecystectomy was performed, and the patient recovered well post-operatively and was discharged home.
Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α -Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding
Authors: Fang-Mei Luo, Liang-Liang Fan, Yue Sheng, Yi Dong, Lv Liu
Journal: Front Pediatr (2021)
Keywords: actn1 mutation, macrothrombocytopenia, mild bleeding, non-sense-mediated mrna decay, whole-exome sequencing
MeSH terms: Case Reports

Inherited macrothrombocytopenia (IMTP) is a rare disorder characterized by a reduced platelet count and abnormally large platelets. The main clinical symptom of IMTP is mild bleeding in some patients. At present, more than 30 genes have been identified in patients with syndromic and non-syndromic IMTP. In this study, a 3-year-old boy and his mother who presented with mild epistaxis and/or gingival bleeding were diagnosed as having IMTP. Wen then selected whole sequencing to explore the genetic lesion of the patients. After data filtering and mutation validation, a novel frameshift mutation (NM_001130004: c.398_399insTGCG, p.F134AfsX60) of α-actin 1 (ACTN1) was identified in the proband and his mother but absent in other unaffected individuals. Previous studies have proven that mutations in ACTN1 may lead to IMTP with mild to absent bleeding phenotype. The novel mutation, resulting in a truncated protein in exon 4 of the ACTN1 gene, was absent in the public database, such as 1000G and genomAD. Further Western blot revealed that the expression of α-actin 1 in the proband was decreased overtly, which indicated that the novel frameshift mutation may induce non-sense-mediated mRNA decay. In summary, this study not only broadened the variants spectrum of ACTN1 gene, which may contribute to the genetic counseling of IMTP, but also confirmed the diagnosis of IMTP, which may help the management and prognosis for the family members.
Safe and effective administration of T-VEC in a patient with heart transplantation and recurrent locally advanced melanoma
Authors: Gustavo Schvartsman, Kristen Perez, Jill E Flynn, Jeffrey N Myers, Hussein Tawbi
Journal: J Immunother Cancer (2017)
Keywords: allotransplant, cancer, immunotherapy, melanoma, rejection, t-vec
MeSH terms: Heart Transplantation, Immunotherapy / methods, Melanoma / therapy, Oncolytic Virotherapy / methods, Skin Neoplasms / therapy, Case Reports, Aged, Head and Neck Neoplasms / diagnostic imaging, Head and Neck Neoplasms / therapy, Humans, Immunotherapy / adverse effects, Male, Melanoma / diagnostic imaging, Neoplasm Recurrence, Local / diagnostic imaging, Neoplasm Recurrence, Local / therapy, Oncolytic Virotherapy / adverse effects, Oncolytic Viruses, Positron Emission Tomography Computed Tomography, Scalp, Skin Neoplasms / diagnostic imaging, Melanoma, Cutaneous Malignant

Background:
Immunotherapy plays a key role in the treatment of metastatic melanoma. Patients with autoimmune conditions and/or on immunosuppressive therapy due to orthotropic transplants, however, are systematically excluded from clinical trials. Talimogene laherparepvec (T-VEC) is the first oncolytic virus to be approved by the FDA for cancer therapy. To our knowledge, this is the first report of T-VEC being administered in the setting of an organ transplant recipient.
Case presentation:
Here we present the case of a patient with recurrent locally advanced cutaneous melanoma receiving salvage T-VEC therapy in the setting of orthotropic heart transplantation. After 5 cycles of therapy, no evidence of graft rejection has been observed to date, and the patient achieved a complete remission, and is currently off therapy.
Conclusion:
This case advocates for further investigation on the safety and efficacy of immunotherapeutic approaches, such as T-VEC, in solid organ transplant recipients.
Case report and literature review: Primary leiomyosarcoma of the bone in the trochanteric region of the femur
Authors: Zhonghan Wu, Li Cheng, Qiliang Cao, Shuming Ye, Shuisheng Yu, Min Sun, Juehua Jing
Journal: Front Surg (2023)
Keywords: bone neoplasms, case report, femur, invasive, joint replacement, leiomyosarcoma, surgical treatment
MeSH terms: Case Reports

Background:
Primary leiomyosarcoma of the bone (LMSB) is an extremely rare, invasive, and highly destructive primary osteosarcoma with limited treatment options and poor prognosis. Only a few case reports of LMSB have been described because of its rarity. Therefore, clinicians have a limited understanding of its diagnosis, treatment, and prognosis, and the final diagnosis depends on histopathological findings. In this report, we describe a rare case of primary LMSB in the trochanteric region of the femur. Reporting this case may increase the dissemination and understanding of information regarding LMSB and provide a reference for the diagnosis and treatment of similar cases.
Case presentation:
A 63-year-old woman presented with pain and limited movement of the left hip, which had lasted for 3 months, with no history of trauma or illness. Plain radiography and computed tomography revealed a solitary osteolytic lesion in the trochanteric area of the left femur with focal cortical destruction. Magnetic resonance imaging findings suggested invasion of the lesion into the bone cortex, forming a soft tissue mass, although no distant positive findings were observed on a whole-body bone scan. A bone tumor puncture biopsy was performed to obtain a final diagnosis, and histopathological evaluation revealed left femoral intertrochanteric leiomyosarcoma, classified as G1T2M0 and staged as IB (extracompartmental low-grade malignant) according to the Enneking staging system. Thus, we performed extensive debridement and left hip arthroplasty. Postoperative chemotherapy was administered, and the patient was followed up for 4 years. Four years later, the patient's left hip pain had resolved, joint activity was good, and no signs of recurrence or distant metastasis of the bone tumor were noted.
Conclusion:
For proximal femoral Enneking stage IB LMSB, extensive tumor resection combined with tumor prosthesis replacement may be an effective treatment method to prolong the patient's lifespan and to restore joint function.
MRSA Spinal Epidural Abscess as a Neurosurgical and Infectious Disease Emergency with Unresolved Antimicrobial Solution
Authors: James Ebot, W D Freeman, Robert Wharen, Mark Anthony Diaz, Claudia Libertin
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Spinal epidural abscess caused by MRSA, a life-threatening organism resistant to methicillin and other antibiotics, is a rare but important infectious pathology due to its potential damage to the spinal cord. We present the case of a 74-year-old man who hematogenously seeded his entire epidural spinal canal from C1 to sacrum with MRSA bacteria and remained infected even after maximal treatment with vancomycin and daptomycin. Ceftaroline, a new 5th generation antibiotic with recently described clearance of widespread MRSA infection in epidural complex spine infections, was added to vancomycin as dual therapy for his MRSA infection. A 74-year-old diabetic man with prior right total knee arthroplasty and MRSA infection presented with persistent bacteremia and sepsis. He was transferred to our academic center after diagnosis of entire spine epidural abscesses from C1 to sacral levels with midthoracic MRI T2 hyperintensities of the vertebral bodies and disc concerning for osteomyelitis and discitis. Despite surgery and IV vancomycin with MIC of 1, suggesting extreme susceptibility, the patient's blood cultures remained persistently bacteremic at day 5 of treatment. After 48 hours of dual antibiotic therapy with vancomycin and ceftaroline, his blood cultures came back showing no growth. The patient's outcome was unfavorable due to the advanced nature of his infection and multiple comorbidities, but his negative blood cultures after the addition of ceftaroline to his regime require further investigation into this dual therapy. Randomized controlled trials of 5th generation or combinatorial antibiotics should be considered for this disease.
The Heart as a Site of Metastasis of Benign Metastasizing Leiomyoma: Case Report and Review of the Literature
Authors: Mariam Meddeb, Robert D Chow, Randolph Whipps, Reyaz Haque
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Uterine leiomyomas are the most common gynecological tumors in premenopausal women. While the lung is the most common extrauterine organ afflicted, benign metastasizing leiomyomas (BML) of the heart are rarities. We report an incidental finding of a cardiac mass in a 36-year-old woman who presented to the Emergency Department after a motor vehicle accident. CT scan of the chest revealed 2 well-circumscribed pulmonary nodules and a filling defect in the right ventricle. Echocardiogram showed a 4 cm mass attached to the right ventricular (RV) septum. The cardiac tumor was resected and showed benign histologic features. Immunohistochemical staining was positive for smooth muscle α-actin and desmin, as well as estrogen and progesterone receptors, consistent with the diagnosis of uterine leiomyoma.
Uterine Trauma and Intrauterine Fetal Death Caused by Seatbelt Injury
Authors: Junsuke Muraoka, Teruo Otsuka, Aya Yamauchi, Kiminari Terao
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

We present a case of uterine trauma and intrauterine fetal death caused by seatbelt injury. A 37-year-old primigravida at gestational week 24 was involved in a single-car accident when traveling as a front-seat passenger and wearing a three-point seatbelt. Fetal heart rate monitoring patterns revealed fetal demise, and computed tomography revealed intraperitoneal bleeding due to damage to the uterine vessels and placental lacerations across the seatbelt-compressed region. Intensive treatment, including transfusion therapy and surgical laparotomy, prevented the loss of her life but not that of the fetus. Seatbelt use can reduce the overall mortality associated with motor vehicle crashes. Pregnant women must be educated on the proper use of restraints while traveling in motor vehicles.
Application of Platelet-Rich Fibrin and Bone Morphogenetic Protein for Full-Mouth Implant-Based Oral Rehabilitation in a Case of Mandibular Osteoradionecrosis
Authors: Amirhossein Moaddabi, Parisa Soltani, Arman Yazdani, Mohammad Hossein Nikbakht, Pardis Amani Beni, Elahe Modabber, Flavia Iaculli, Gianrico Spagnuolo
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Osteoradionecrosis (ORN) is a debilitating complication following radiation therapy, which in the head and neck region, occurs most frequently in the mandible. Although ORN is rare, it is complex and multifactorial and requires appropriate management. Manipulation of bone in patients with head and neck cancers before radiotherapy can cause ORN. In this report, we aim to present successful insertion of four dental implants in the interforaminal segment combined with application of platelet-rich fibrin and bone morphogenetic protein in a 60-year-old male with stable ORN in the posterior regions of the mandible.