OpenMed/multicare-articles huggingface dataset:
Case report: Temozolomide induced hypermutation indicates an unfavorable response to immunotherapy in patient with gliomas
Authors: Jiapeng Liu, Shuli Hu, Haihui Jiang, Yong Cui
Journal: Front Immunol (2024)
Keywords: glioma, hypermutation, immunologic response, immunotherapy, temozolomide
MeSH terms: Antineoplastic Agents, Alkylating / therapeutic use, Brain Neoplasms / genetics, Brain Neoplasms / immunology, Brain Neoplasms / therapy, Glioma / drug therapy, Glioma / genetics, Glioma / therapy, Mutation, Temozolomide / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Adult, Fatal Outcome, Humans, Immunotherapy / methods, Male, Tumor Microenvironment / immunology, Temozolomide, Antineoplastic Agents, Alkylating

Background:
Temozolomide (TMZ) is a key component in the treatment of gliomas. Hypermutation induced by TMZ can be encountered in routine clinical practice, and its significance is progressively gaining recognition. However, the relationship between TMZ-induced hypermutation and the immunologic response remains controversial.
Case presentation:
We present the case of a 38-year-old male patient who underwent five surgeries for glioma. Initially diagnosed with IDH-mutant astrocytoma (WHO grade 2) during the first two surgeries, the disease progressed to grade 4 in subsequent interventions. Prior to the fourth surgery, the patient received 3 cycles of standard TMZ chemotherapy and 9 cycles of dose-dense TMZ regimens. Genomic and immunologic analyses of the tumor tissue obtained during the fourth surgery revealed a relatively favorable immune microenvironment, as indicated by an immunophenoscore of 5, suggesting potential benefits from immunotherapy. Consequently, the patient underwent low-dose irradiation combined with immunoadjuvant treatment. After completing 4 cycles of immunotherapy, the tumor significantly shrank, resulting in a partial response. However, after a 6-month duration of response, the patient experienced disease progression. Subsequent analysis of the tumor tissue obtained during the fifth surgery revealed the occurrence of hypermutation, with mutation signature analysis attributing TMZ treatment as the primary cause. Unfortunately, the patient succumbed shortly thereafter, with a survival period of 126 months.
Conclusion:
Patients subjected to a prolonged regimen of TMZ treatment may exhibit heightened vulnerability to hypermutation. This hypermutation induced by TMZ holds the potential to function as an indicator associated with unfavorable response to immunotherapy in gliomas.
Normal Levels of Ionized Calcium Despite Persistent Increase in Total Calcium in a Patient With IgA Paraproteinemia
Authors: Ignacio Portales-Castillo, Abdullah Jalal, Peggy L Kendall, Deborah Parks
Journal: JCEM Case Rep (2023)
Keywords: iga, albumin, hypercalcemia, ionized calcium, pseudohypercalcemia
MeSH terms: Case Reports

Approximately half of the calcium in the blood circulates in the ionized, free form; which is critical for cellular function. As a result, its levels are tightly regulated by homeostatic mechanisms dependent on hormones such as PTH, vitamin D, and fibroblast growth factor-23. The other half of the total calcium is in a complex with anions, predominantly albumin. Clinically, the levels of albumin are known to influence the relationship of total calcium to free calcium. However, the relevance of changes in other serum proteins on calcium homeostasis is less appreciated. We present the case of a 70-year-old woman who was followed over 5 years with persistently elevated total calcium levels but with normal ionized calcium levels. Her evaluation was notable for IgA paraprotein, which paralleled her history of elevated total serum calcium. Extensive clinical investigations did not reveal hyperparathyroidism or cancer-mediated hypercalcemia. Additional in vitro analyses comparing the plasma containing the IgA paraprotein against a healthy control revealed that a high-molecular-weight IgA paraprotein in the patient has increased capacity to reduce the amount of free calcium in solution, thus providing a direct mechanistic explanation for the clinical findings.
Management of Ectropion Associated With a Malunited Zygomaticomaxillary Complex Fracture: A Case Report
Authors: Deepankar Shukla, Nitin Bhola
Journal: Cureus (2024)
Keywords: ankylotic mass, ectropion, malunion, temporalis muscle graft, z-plasty
MeSH terms: Case Reports

We report the case of a 35-year-old male patient who presented with a right zygomaticomaxillary complex fracture, which was five months old. It was associated with ectropion over the right eye. Diagnosis was made by clinical examination and confirmed by computed tomography, which included a three-dimensional reconstruction view. The patient was concerned about a projecting deformity over the right side of his face and blurring of vision. Surgical rationale of treatment was to easily access the surgical site for the correction of deformity and to achieve the desired facial contour and ectropion correction with uneventful postoperative healing. Deformity at the right zygomatic arch was exposed by a hemicoronal incision. Ectropion over the lower eyelid was addressed by performing Z-plasty. Outcomes were esthetically pleasing with no loss of motor and sensory functions loss. The patient was followed up for six months.
Safety confirmation of induced pluripotent stem cell-derived cardiomyocyte patch transplantation for ischemic cardiomyopathy: first three case reports
Authors: Takuji Kawamura, Yoshito Ito, Emiko Ito, Maki Takeda, Tsubasa Mikami, Takura Taguchi, Noriko Mochizuki-Oda, Masao Sasai, Tomomi Shimamoto, Yukako Nitta, Daisuke Yoshioka, Masashi Kawamura, Ai Kawamura, Yusuke Misumi, Yasushi Sakata, Yoshiki Sawa, Shigeru Miyagawa
Journal: Front Cardiovasc Med (2023)
Keywords: hla antibodies, cardiomyocyte patch transplantation, heart failure, ips cells, immune response, myocardial regenerative medicine

Introduction:
With the expected increase in patients with heart failure and ischemic 15 cardiomyopathy, the development of myocardial regenerative medicine using cell transplantation as a novel treatment method is progressing. This first-in-human clinical trial aimed to confirm the safety of cardiomyocyte patch transplantation derived from allogeneic induced pluripotent stem (iPS) cells based on the results of several preclinical studies.
Study design:
The inclusion criteria were left ventricular ejection fraction of 35% or less; heart failure symptoms of New York Heart Association class III or higher despite existing therapies such as revascularization; and a 1-year observation period that included a 3-month immunosuppressive drug administration period after transplantation of iPS cell-derived cardiomyocyte patches to evaluate adverse events, cardiac function, myocardial blood flow, heart failure symptoms, and immune response.
Results:
In the first three cases of this trial, no transplanted cell-related adverse events were observed during the 1-year observation period, and improvement in heart failure symptoms was observed. In addition, improvements in left ventricular contractility and myocardial blood flow were observed in two of the three patients. Regarding immune response, an increase in transplant cell-specific antibody titer was observed in all three patients after immunosuppressive drug administration. In one patient with poor improvement in cardiac function and myocardial blood flow, an increase in antibody titer against HLA-DQ was observed even before cell transplantation.
Conclusions:
Our case findings demonstrate that the transplantation of iPS cell-derived cardiomyocyte patches for ischemic cardiomyopathy can be safely performed; however, further investigation of the therapeutic effect and its relationship with an immune response is needed by accumulating the number of patients through continued clinical trials.
Case report: Spontaneous rupture of leiomyosarcoma uteri 8 months after primary laparoscopic surgery of STUMP
Authors: Marija Bicanin-Ilic, Igor Ilic, Aleksandra Dimitrijevic, Srdjan Mujkovic, Nikola Jovic, Dejana Rakic, Neda Arsenijevic, Tamara Nikolic-Turnic, Goran Balovic, Andjela Peric, Aleksandra Mitrovic, Aleksandar Nikolov
Journal: Front Med (Lausanne) (2024)
Keywords: stump, stump progression, stump recurrence, laparoscopy, leiomyosarcoma, leiomyosarcoma rupture, uterus
MeSH terms: Case Reports

Introduction:
Leiomyosarcoma (LMS), together with smooth muscle tumors of uncertain malignant potential (STUMP) and benign leiomyomas, belongs to a heterogeneous group of uterine neoplasms. According to the World Health Organization, tumors originating from uterine smooth muscle fibers are the second most frequent tumors. It is challenging to distinguish between STUMP and LMS because of an overlap of symptoms, lack of a precise definition, and unequivocal information obtained using imaging diagnostic methods. Following myomectomy or hysterectomy with laparoscopic or laparotomy surgery and a definitive histological diagnosis of STUMP, the course of treatment is determined by the need to preserve fertility. In 2014, the U.S. Food and Drug Administration published an alert that unprotected laparoscopic morcellation is correlated with a 3-fold higher likelihood of dissemination of malignant cells and disease progression. Unprotected morcellation was independently associated with a higher risk of disease recurrence after demolition or conservative surgery, with a relative risk of 2.94.
Conclusion:
Hematoperitoneum resulting from the spontaneous rupture of a uterine tumor is a rare gynecological emergency, with very few cases reported in the last decade.
Haemophagocytic lymphohistiocytosis after intravesical BCG administration for bladder cancer presenting with multiorgan failure
Authors: G D Liatsos, G Manousopoulou, A Poulaki, A Iliaki, I Mariolis, D Vassilopoulos
Journal: Access Microbiol (2023)
Keywords: bcg, haemophagocytosis, intravesical, kidney injury, liver failure
MeSH terms: Case Reports

Bacillus Calmette-Guérin (BCG), is administered intravesically as an adjuvant immunotherapy for the treatment of non-muscle invasive bladder cancer. While mild non-infectious problems can occur in up to 85 % of cases, significant local and systemic complications have been reported in 1-5 % of cases. We report the case of a patient with superficial bladder cancer who developed multiorgan failure after intravesical BCG instillation including the kidney and liver with subsequent haemophagocytic lymphohistiocytosis. Our case illustrates the first reported combination of secondary haemophagocytic lymphohistiocytosis with severe renal and liver failure after BCG immunotherapy for bladder carcinoma. Treatment strategy is discussed.
Adenomatous hyperplasia induced by chronic cherry pit retention mimicking an endobronchial tumor-case series and systematic review of literature
Authors: Gani Oruqaj, Gabriele Krombach, Stefan Gattenloehner, Susanne Herold, István Vadász, Werner Seeger, Khodr Tello, Matthias Hecker
Journal: Front Med (Lausanne) (2024)
Keywords: actinomycosis, adenomatous hyperplasia, cherry pit, mimicking lung, squamous metaplasia
MeSH terms: Case Reports

Introduction:
Endobronchial foreign body aspiration is not common in adults, but it is a life-threatening event. Recurrent pneumonias by chronic retention of foreign body often lead to initial medical presentation of the patient. However, lymphoplasmacellular bronchitis with adenomatous hyperplasia and squamous epithelium metaplasia with complete or partial blockage of lobar bronchus mimicking lung tumor is rare in literature, and this particular condition is often misdiagnosed.
Case presentation:
we report our experience in the diagnostic and management of two elderly patients with recurrent pneumonia, admitted in hospital for further examination. In both patients, with no history of aspiration, the cherry pit was detected during bronchoscopy and recanalization with flexible cryoprobe, surrounded by purulent secretion, occluding completely the right upper lobe in the first case, and partially the left lower lobe associated with persistent actinomycosis in the second case, with signs of local inflammation, bronchial adenomatous hyperplasia mimicking lung tumor at initial bronchoscopic examination. Histology showed a lymphoplasmacellullar bronchitis with adenomatous hyperplasia and squamous epithelium metaplasia because of chronic retention of foreign body.
Conclusion:
Bronchoscopy examination should be considered in cases where there is an unresolved chronic cough with recurrent pneumonia or persistent actinomycosis in patients with high risk. Cryoprobe is a safe and feasible approach for treatment of airway obstructions due to chronic foreign body retention. Furthermore, relevant findings are discussed here, along with a review of the pathologic alterations and treatment modalities seen in chronic retention of foreign body and airway injury.
Stimulating Superior Cluneal Nerves via Peripheral Nerve Stimulation as a Treatment for Chronic Low Back Pain
Authors: Peter D Vu, Christopher L Robinson, Alan D Kaye, Jamal Hasoon
Journal: Cureus (2024)
Keywords: chornic pain, chronic pain management, low back pain (lbp), peripheral nerve stimulator, superior cluneal nerve
MeSH terms: Case Reports

Low back pain (LBP) is a challenging clinical condition for both patients and physicians. It requires a comprehensive initial diagnosis to avoid missing potential causes. One less common cause is superior cluneal neuralgia (SCN), which can present with limited lumbar motion, LBP, buttock pain, or an antalgic gait. While conservative therapies are often first line for LBP, neuromodulation, such as peripheral nerve stimulation (PNS), can be considered for more refractory cases. This case report is unique in that SCN was treated with a temporary PNS system, which provided sustained analgesic benefits without the need for permanent implantation.
Case Report: Clinical effect of combining auricular cartilage, full-thickness auricular skin graft, and local flap from the right nasal ala in complex nasal defect reconstruction
Authors: Jinfu Zuo, Rong Wang, Xiaoting Fan, Haixia Zhang, Zhaohui Zhai, Huachang Sun
Journal: Front Surg (2024)
Keywords: ear cartilage, flap, nasal defect, nasal deformity, prefabricated skin
MeSH terms: Case Reports

The aim of this report was to evaluate the efficacy of nasal reconstruction using auricular cartilage combined with auricular full-thickness skin graft and a local flap from the right nasal ala for correcting complex nasal defects, and its impact on the patient's quality of life and psychological well-being. We present the case of a 50-year-old female with a severe nasal deformity due to a car accident, characterized by a missing right alar flap and an exposed right nostril. The patient underwent nasal reconstructive surgery using auricular cartilage combined with an auricular full-thickness skin graft and a local flap from the right nasal ala. Detailed records of the patient's postoperative recovery, surgical outcomes, and satisfaction were made at follow-up. The survival rate of the grafted skin and flaps on the nasal ala, septum, and dorsum was high. The reconstructed right nasal ala closely resembled the left, and the patient was very satisfied. In patients with complex nasal deformities, nasal reconstruction using ear cartilage combined with auricular full-thickness skin grafts and local flaps can achieve satisfactory aesthetic and functional outcomes. The high level of postoperative satisfaction suggests that this technique significantly improves patients' quality of life and psychological well-being.
Solitary Bone Cyst in the Lumbar Spine: Case Report and Literature Review
Authors: José Ramírez-Villaescusa, David Ruiz-Picazo, Ana Verdejo-González, Adriana Canosa-Fernández, Pedro Torres-Lozano, Gracia Guerrero-Álvarez
Journal: Case Rep Orthop (2024)
MeSH terms: Case Reports

Introduction:
To describe a rare case of solitary bone cyst in the vertebral body of the lumbar vertebra in an adult patient. The solitary bone cyst is defined as a cystic lesion with liquid content. Few cases have been described in the vertebral location without preference for the posterior arch or vertebral body. Most have been treated with resection, curettage, and/or grafting. No case described to date has been treated with polymethylmetacrylate (PMMA) injection in the vertebral location. Case Presentation. A 50-year-old male patient was consulted for lumbar pain with no traumatic history and no neurologic deficit. The radiological study showed lumbar arthrodesis with L2-L4 instrumentation due to an L3 fracture twenty years earlier. Computed tomography (CT) scan showed a lytic lesion occupying practically the entire vertebral body of L5, with incomplete septum and sclerotic edge, without cortical rupture. The previous steel instrumentation was removed, to avoid the presence of artifacts when performing the magnetic resonance (MR), and a biopsy of L5 vertebra was performed via transpedicular in the same act. The MR study findings and biopsy were compatible with the simple bone cyst. Finally, a new intervention was performed by filling the lesion with PMMA. Follow-up at 5 years was satisfactory without lumbar pain as well as the radiological study and with a return to previous activity.
Conclusions:
The spinal location of the simple bone cyst is extremely infrequent. Its diagnosis excludes other lesions and is made by imaging studies and biopsy. Treatment can be performed by excision, curettage, or filling with graft or as in this case, with PMMA.
Transient activation of retinopathy of prematurity secondary to erythrocyte suspension transfusion
Authors: Alparslan Şahin
Journal: Rom J Ophthalmol (2024)
Keywords: erythrocyte suspension, plus sign, retinopathy of prematurity, transfusion, transient activation
MeSH terms: Retinopathy of Prematurity / diagnosis, Retinopathy of Prematurity / etiology, Case Reports, Erythrocytes, Humans, Infant, Infant, Newborn, Infant, Premature

Retinopathy of prematurity (ROP) is a serious retinal vascular disorder that needs prompt diagnosis, and treatment to prevent undesired visual outcomes. Due to its shorter period of disease progression, it is important to be hasty in treating ROP. Erythrocyte suspension (ES) aggravates the progression of ROP. However, this progression may be transient as in the present case reports. This case report aimed to present two cases that developed type 1 ROP after erythrocyte suspension transfusion. Clinical findings of the patients were resolved within a few days without any intervention. Premature infants receiving ES treatment can be observed for 24-48 hours, and the treatment can be planned after determining the persistence of the plus sign. Abbreviations: ES = Erythrocyte suspension, ROP = Retinopathy of prematurity, NICU = neonatal intensive care unit.
Novel de novo SPAST mutation in a Han Chinese SPG4 patient: a case report
Authors: Yu-Han Xu, Bao-Yu Yuan, Jia-Le Ji, Di Wu, Hong Zhou, Yi-Jing Guo
Journal: Front Genet (2024)
Keywords: spg4, case report, de novo variant, hereditary spastic paraplegia, late-onset
MeSH terms: Case Reports

Spastic paraplegia type 4 (SPG4), the predominant form of Autosomal Dominant Hereditary spastic paraplegia (AD-HSP), is characterized by variants in the SPAST gene. This study reports a unique case of a late-onset SPG4 in a Han Chinese male, manifesting primarily as gait disturbances from lower extremity spasticity. Uncovered through whole-genome sequencing, a previously undocumented frameshift variant, c.1545dupA in exon 14 of the SPAST gene, was identified. Notably, this variant was absent in asymptomatic parents with confirmed paternity and maternity status, suggesting a de novo variant occurrence. This discovery emphasizes the potential of de novo variants to exhibit a late-onset pure pattern, extending the SPG4 variant spectrum, and consideration of such variants should be given in HSP patients with a negative family history.
Patient-derived organoids facilitating individual therapy in an adolescent with embryonal rhabdomyosarcoma of the cervix: a case report and literature review
Authors: Xinyu Qiao, Zhaomin Zeng, Peng Chen, Mingrong Xi, Minmin Hou
Journal: Front Oncol (2023)
Keywords: adolescent, case report, embryonal rhabdomyosarcoma of the cervix (cerms), patient-derived organoids (pdos), therapy
MeSH terms: Case Reports

Rhabdomyosarcoma (RMS) is a highly aggressive pediatric neoplasm that originates from striated muscle or undifferentiated mesenchymal cells. Based on its histopathological characteristics, the World Health Organization categorizes RMS into four distinct subtypes: embryonal RMS, alveolar RMS, pleomorphic RMS, and sclerosing/spindle cell RMS. Embryonal RMS represents the predominant subtype and primarily manifests in the head and neck region, with the genitourinary system being the subsequent most frequent site of occurrence. Embryonal rhabdomyosarcoma of the cervix (cERMS) is more insidious in the reproductive tract, and there is still a lack of consensus on its treatment. Patient-derived organoids (PDOs) are being prioritized for use in guiding personalized medicine. The application of PDOs to test the sensitivity of chemotherapy drugs in patients with cERMS has rarely been reported. In this case report, we delineate the presentation and diagnosis of a 16-year-old adolescent with cERMS, emphasizing the utilization of PDOs in the management of this infrequent neoplasm. We intend to elucidate the diagnostic and therapeutic processes associated with cERMS by referencing previously reported literature on this infrequent tumor, aiming to offer a foundation for clinical practice.
Massive tarsal coalition with extended tarsometatarsal coalition in a child: a case report
Authors: Lei Yang, Xiaodong Yang, Jun Jiang, Xueyang Tang
Journal: Front Pediatr (2024)
Keywords: case report, foot deformity, pediatric, synostosis, tarsal coalition
MeSH terms: Case Reports

Tarsal coalition refers to the union of two or more tarsal bones, which mostly involves the calcaneonavicular and talocalcaneal joints; it is rarely found in multiple unions or unions extended to the metatarsal bones. Nearly 50% of cases occur bilaterally and can be either symmetrical or asymmetrical. We described a rare case of symmetrically bilateral tarsal coalitions involving all the tarsal bones, except for the medial cuneiform, and extending to the fourth metatarsal bones in a 5-year-old boy. This patient exhibited no obvious symptoms and had not received any further intervention, only regular follow-up. To our knowledge, this is the first report of this type of massive coalition involving the union of six tarsals and one tarsometatarsal bilaterally.