OpenMed/multicare-articles huggingface dataset:
Case report: Benign and malignant tumors in adult patients with neurofibromatosis type 1: a comprehensive case series from a large oncologic reference center
Authors: Silvia Vidal-Millan, Zyanya Lucia Zatarain-Barrón, Kena Daza-Galicia, Daniela Shveid Gerson, Pavel Salvador Pichardo-Rojas, Alejandro Salazar-Pigeon, Talia Wegman-Ostrosky
Journal: Front Oncol (2024)
Keywords: hispanics, adults, breast cancer, malignancies, malignant peripheral nerve sheath tumors, neurofibromatosis type 1
MeSH terms: Case Reports

Purpose:
Neurofibromatosis type 1 (NF1) is a complex, multisystem disorder that is characterized, among other features, by a higher risk of developing benign and malignant tumors. Despite NF1 being one of the most common autosomal dominant genetic disorders, data from adult individuals in several world regions remain elusive, including Hispanics.
Methods:
The present is a retrospective cohort study conducted among adult patients with a confirmed diagnosis of NF1 who attended a single cancer-reference center, the Instituto Nacional de Cancerología in Mexico City from 2001 to 2021. Data were extracted from electronic health records and collected in an anonymous database by an NF1-expert physician in order to obtain demographic characteristics and detailed information regarding the development of tumors among this patient subgroup. All patients with malignant tumors or with benign tumors, which severely affected their quality of life, were included in this study.
Results:
Patient records were reviewed from 2001 to 2021. A total of N = 29 patients met the criteria, with a higher proportion of female compared with male subjects [N = 22 (75.9%) vs. N = 7 (24.1%)]. Patients had a mean age at diagnosis of tumors of 32.2 years (SD = 11.2 years). In terms of malignant neoplasms, the most frequent malignant tumor presented by patients in this cohort was malignant peripheral nerve sheath tumors (N = 7, 24.1%), this was followed by breast cancer (n = 4, 13.8% among all patients, 18.2% among female patients). Other tumors also identified in this cohort included melanoma, gastrointestinal stromal tumors, and rectal cancer.
Conclusion:
In Mexico, patients diagnosed with NF1 develop diverse tumors as adults. As described in other studies, the most frequent malignant tumor in this patient population is the malignant peripheral nerve sheath tumor. Further studies are required to increase the scarce information available for adult Hispanics with NF1.
Oral Gastric Heterotopia: First Reported Case in the Hard Palate
Authors: Sofia Correia, João Mendes Abreu, Fátima Ramalhosa, Leonor Barroso, Isabel Amado
Journal: Cureus (2024)
Keywords: choristoma, gastric heterotopia, heterotopic tissue, mouth, oral pathology, palate
MeSH terms: Case Reports

Gastric heterotopia is characterized by the presence of mature gastric tissue outside the stomach, yet its occurrence in the palate has not been previously documented. We describe a case of gastric heterotopia in the hard palate of an elderly female patient, presenting as a swollen mass with associated secretion. Given the patient's age and clinical symptoms, a presumptive diagnosis of a malignant tumor originating from the minor salivary glands was made. An incisional biopsy of the mass revealed gastric heterotopia. Subsequently, the extended excision of the lesion was performed, leading to the full resolution of the patient's symptoms. After a two-year follow-up period, no evidence of recurrence was observed. The importance of this case, underscored by the unprecedented location of gastric heterotopia, emphasizes the critical need for thorough evaluation to avert misdiagnosis, as well as the complete surgical excision of the lesion to prevent recurrence.
Single-cell transcriptome sequencing provides insight into multiple chemotherapy resistance in a patient with refractory DLBCL: a case report
Authors: Kewei Zhao, Qiuhui Li, Pengye Li, Tao Liu, Xinxiu Liu, Fang Zhu, Liling Zhang
Journal: Front Immunol (2024)
Keywords: diffuse large b-cell lymphoma, single-cell rna sequencing, treatment resistance, tumor heterogeneity, tumor immune microenvironment
MeSH terms: Lymphoma, Large B-Cell, Diffuse / pathology, Lymphoma, Non-Hodgkin / drug therapy, Case Reports, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Humans, Neoplasm Recurrence, Local / drug therapy, Transcriptome, Tumor Microenvironment

Relapsed and refractory diffuse large B-cell lymphoma (DLBCL) is associated with poor prognosis. As such, a comprehensive analysis of intratumoral components, intratumoral heterogeneity, and the immune microenvironment is essential to elucidate the mechanisms driving the progression of DLBCL and to develop new therapeutics. Here, we used single-cell transcriptome sequencing and conventional bulk next-generation sequencing (NGS) to understand the composite tumor landscape of a single patient who had experienced multiple tumor recurrences following several chemotherapy treatments. NGS revealed several key somatic mutations that are known to contribute to drug resistance. Based on gene expression profiles at the single-cell level, we identified four clusters of malignant B cells with distinct transcriptional signatures, showing high intra-tumoral heterogeneity. Among them, heterogeneity was reflected in activating several key pathways, human leukocyte antigen (HLA)-related molecules' expression, and key oncogenes, which may lead to multi-drug resistance. In addition, FOXP3+ regulatory CD4+ T cells and exhausted cytotoxic CD8+ T cells were identified, accounted for a significant proportion, and showed highly immunosuppressive properties. Finally, cell communication analysis indicated complex interactions between malignant B cells and T cells. In conclusion, this case report demonstrates the value of single-cell RNA sequencing for visualizing the tumor microenvironment and identifying potential therapeutic targets in a patient with treatment-refractory DLBCL. The combination of NGS and single-cell RNA sequencing may facilitate clinical decision-making and drug selection in challenging DLBCL cases.
An Unexpected Presentation of Serotonin Syndrome in a Patient Receiving ECT
Authors: Shahzaib Khan, Breanna Wennberg, Malgorzata Witkowska, Jacob Rattin, Raunak Khisty
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

Serotonin syndrome is a toxidrome consisting of autonomic instability, altered mentation, hyperreflexia, clonus, and seizures. It is suspected to be due to either elevated serotonin concentrations or overstimulation of 5-hydroxytryptamine (5-HT) receptors. There are at least seven families of serotonin or 5-HT receptors along with multiple subtypes. The 5-HT1A and 5-HT2A serotonin receptor subtypes are heavily suspected to cause the broad spectrum of symptoms seen in serotonin syndrome. We present the case of a young woman treated with multiple psychotropic medications who developed serotonin syndrome (SS) after receiving electroconvulsive therapy (ECT). She had multiple psychiatric hospitalizations, and ECT was determined to be the appropriate course of treatment due to her treatment-resistant symptoms and catatonia. The case was unique as she tolerated multiple ECT treatments over a few weeks before the acute onset of serotonin syndrome following her eighth treatment, and she did not have any medication changes after the second ECT treatment. The patient's acute presentation of rigidity, elevated temperature, hyperreflexia, diaphoresis, confusion, and psychomotor agitation led to a diagnosis of serotonin syndrome. ECT is a neuromodulatory procedure approved for treatment-resistant depression and schizophrenia that involves electrically stimulating the brain with electrodes on the scalp to induce a seizure. The mechanism by which ECT confers therapeutic benefit for patients with neuropsychiatric conditions is not entirely understood. We discuss some of the literature on SS and ECT to better understand the potential for a causal relationship.
Case report: Successful treatment with biologics in a pediatric patient with a severe inflammatory skin disease and novel CARD14 mutation
Authors: Michał Niedźwiedź, Joanna Narbutt, Aleksandra Siekierko, Małgorzata Skibińska, Bartłomiej Kwiek, Dorota Sobolewska-Sztychny, Magdalena Ciążyńska, Katarzyna Poznańska-Kurowska, Antoni Gostyński, Aleksandra Lesiak
Journal: Front Med (Lausanne) (2024)
Keywords: cape, card14, card14-associated papulosquamous eruption, card14
MeSH terms: Case Reports

CARD14 (caspase activation and recruitment domain) mutations have been associated with psoriasis vulgaris, psoriatic arthritis, generalized and palmoplantar pustular psoriasis, pityriasis rubra pilaris, and atopic dermatitis. We present a pediatric patient with a novel CARD14: c.394A > T/- (Ile123Phe) mutation, diagnosed with CARD14-associated papulosquamous eruption (CAPE), who was successfully treated with biological treatment.
Campylobacter rectus, an Uncommon Isolate of Multiple Splenic Abscesses, in a 79-Year-Old Chinese Woman With an Attempt at Conservative Management Followed by Operative Intervention: A Case Report
Authors: Christian Przeslawski, Alise Haddad, Alona Salita, Michel Hanna, Jonathan Lezotte
Journal: Cureus (2024)
Keywords: actinomyces splenic abscess, campylobacter rectus, campylobacter rectus splenic abscess, campylobacter splenic abscess, invasive campylobacter rectus, minimally invasive splenectomy, splenic abscess
MeSH terms: Case Reports

Splenic abscesses are rare pathologic conditions in which Actinomyces and Campylobacter species are rarely isolated. We present a 79-year-old female with multiple splenic abscesses from unknown sources with both Actinomyces species and Campylobacter rectus being isolated. She was initially treated conservatively with percutaneous drainage but eventually needed splenectomy. To our knowledge, this is the first documented case of Campylobacter rectus isolated from a splenic abscess.
Improvement in proteinuria with sodium-glucose cotransporter 2 inhibitors and esaxerenone treatment in patients with chronic allograft kidney disease: A case report
Authors: Shoichiro Daimon
Journal: Clin Nephrol Case Stud (2024)
Keywords: esaxerenone, kidney transplantation, mineralocorticoid receptor blocker, proteinuria, sodium glucose cotransporter 2 inhibitor
MeSH terms: Case Reports

Proteinuria is a predictor of end-stage renal disease. The effectiveness of an angiotensin-converting enzyme inhibitor or an angiotensin II receptor blocker for the reduction in urinary protein excretion and renoprotection in proteinuric chronic kidney disease patients is well known, and coadministration of and sodium-glucose cotransporter inhibitor and the mineralocorticoid receptor blocker eplerenone has recently demonstrated an additive albuminuria-lowering effect in chronic kidney disease patients. Proteinuria is also an independent predictor of end-stage renal disease in kidney transplant recipients. Sodium-glucose cotransporter 2 inhibitors were administered to a 60-year-old man with chronic allograft kidney disease who had increasing urinary protein excretion with valsartan treatment. Although urinary protein excretion decreased drastically, it later increased to the same levels. A nonsteroidal mineralocorticoid receptor blocker, esaxerenone, was added to these medications, again resulting in a decrease in urinary protein excretion. Although the long-term renoprotective effect is not known, these medicines are promising and safe agents to reduce urinary protein excretion in patients with chronic allograft kidney disease.
Case report: Decreased hemoglobin and multiple organ failure caused by ceftizoxime-induced immune hemolytic anemia in a Chinese patient with malignant rectal cancer
Authors: Can Lou, Meng Liu, Ting Ma, Liu Yang, Dan Long, Jiaming Li, Hang Lei, Dong Xiang, Xuefeng Wang, Lei Li, Xiaohong Cai
Journal: Front Immunol (2024)
Keywords: diiha, antibody, ceftizoxime, decreased hemoglobin, direct antiglobulin test
MeSH terms: Anti-Bacterial Agents / adverse effects, Ceftizoxime / adverse effects, Hemoglobins / metabolism, Multiple Organ Failure / etiology, Rectal Neoplasms / drug therapy, Rectal Neoplasms / immunology, Rectal Neoplasms / surgery, Case Reports, Anemia, Hemolytic / chemically induced, Anemia, Hemolytic / diagnosis, Anemia, Hemolytic / etiology, Anemia, Hemolytic / immunology, Anemia, Hemolytic, Autoimmune / chemically induced, Anemia, Hemolytic, Autoimmune / diagnosis, Anemia, Hemolytic, Autoimmune / immunology, China, East Asian People, Humans, Male, Middle Aged

Background:
Drug-induced immune hemolytic anemia (DIIHA) is a rare but serious condition, with an estimated incidence of one in 100,000 cases, associated with various antibiotics. This study reports on a case of ceftizoxime-induced hemolysis observed in a patient in China.
Case description:
A Chinese patient diagnosed with malignant rectal cancer underwent antimicrobial therapy after laparoscopic partial recto-sigmoid resection (L-Dixon). After receiving four doses of ceftizoxime, the patient developed symptoms including rash, itchy skin, and chest distress, followed by a rapid decline in hemoglobin levels, the presence of hemoglobin in the urine (hemoglobinuria), renal failure, and disseminated intravascular coagulation. Laboratory analysis revealed high-titer antibodies against ceftizoxime and red blood cells (RBCs) in the patient's serum, including immunoglobulin M (IgM) (1:128) antibodies and immunoglobulin G (IgG) (1:8) antibodies, with noted crossreactivity to ceftriaxone. Significant improvement in the patient's hemolytic symptoms was observed following immediate discontinuation of the drug, two plasma exchanges, and extensive RBC transfusion.
Conclusion:
This case, together with previous reports, underscores the importance of considering DIIHA in patients who exhibit unexplained decreases in hemoglobin levels following antibiotic therapy. A thorough examination of the patient's medical history can provide crucial insights for diagnosing DIIHA. The effective management of DIIHA includes immediate cessation of the implicated drug, plasma exchange, and transfusion support based on the identification of specific drug-dependent antibodies through serological testing.
Williamsia muralis bacteraemia in a patient with Fanconi anaemia after haematopoietic cell transplantation
Authors: Motoshi Sonoda, Yoshitomo Motomura, Masataka Ishimura, Shunsuke Kanno, Makiko Kiyosuke, Shouichi Ohga
Journal: Access Microbiol (2023)
Keywords: 16s rrna sequencing, williamsia muralis, bacteraemia, catheter-related bloodstream infection, haematopoietic cell transplantation
MeSH terms: Case Reports

Introduction:

Williamsia muralis is an environmental bacterium first detected in 1999. Infections with W. muralis isolated have been reported in two elderly patients, and were associated with the surgical intervention of artificial objects. We present a case of bacteraemia caused by W. muralis following haematopoietic cell transplantation (HCT).
Case presentation:
A 10-year-old Japanese boy presented with fever and the swelling of the left cheek 8 days after HCT for the treatment of Fanconi anaemia. Gram-positive, rod-shaped bacteria were isolated from the blood cultures after 5 days incubation. 16S rRNA sequencing, but not mass spectrometry, identified a strain of W. muralis (1 414 bp, %ID 100 %). The phlegmon did not respond to antimicrobial therapy, but remitted with defervescence after a successful engraftment with teicoplanin and meropenem therapy on day 16 after HCT. The patient experienced recurrence of the bacteraemia, leading to central venous catheter (CVC) line removal. The same strain of W. muralis was isolated from the cultured tip of the CVC. To our knowledge, this is the first reported case of W. muralis bacteraemia and was complicated by CVC infection after HCT.
Conclusion:

W. muralis bacteraemia developed in an immunocompromised child. Introduction of artificial objects into the body raises a risk of rare infection with slowly growing environmental bacteria.
Case report: One-stage craniectomy and cranioplasty digital workflow for three-dimensional printed polyetheretherketone implant for an extensive skull multilobular osteochondosarcoma in a dog
Authors: Marc Hobert, Neha Sharma, Caroline Benzimra, Sandro Hinden, Anna Oevermann, Michaela Maintz, Michel Beyer, Florian Thieringer, Julien Guevar
Journal: Front Vet Sci (2024)
Keywords: peek-polyether ether ketone, craniectomy, craniotomy, dog, multilobular osteochondroma
MeSH terms: Case Reports

Objective:
To report a digital workflow for use and long-term outcome of cranioplasty with a 3D-printed patient-specific Polyetheretherketone (PEEK) implant in a 12-y-old German Shepherd dog after surgical removal of an extensive occipital bone multilobular osteochondrosarcoma (MLO).
Study design:
Retrospective case report.
Animal:
A 12-year-old neutered female German Shepherd dog was presented with facial deformity, blindness, tetraparesis, and ataxia. Magnetic resonance imaging (MRI) and computed tomography (CT) identified a large skull-based mass extending extra-and intracranially with severe compression of the cerebellum and occipital lobes of the cerebrum.
Methods:
One-stage decompressive craniectomy using virtual surgical planned 3D-printed craniotomy cutting guides and the Misonix BoneScalpel® and reconstruction with a patient-specific 3D-printed PEEK cranial implant.
Results:
3D-printed craniectomy cutting guides allowed an adequate fit of the cranial implant to the original skull. Misonix BoneScalpel® allowed performing a safe and extensive craniectomy. Postoperative CT (8 weeks after surgery) confirmed the PEEK cranial implant to be in place and without implant rejection. Clinically, the neurological examination identified only a right-hind limb delay in proprioception 8 weeks postoperatively, which remained unchanged at 18 months after surgery. Adjunctive treatment included metronomic chemotherapy. Eighteen months after surgery the dog passed away for reasons unrelated to the MLO, no implant-related complications were reported.
Conclusion:
3D-printed craniectomy cutting guides, patient-specific PEEK cranial implant, and metronomic chemotherapy can lead to a successful long-term outcome in dogs with extensive skull MLO.
Clinical significance:
PEEK is an alternative biomaterial that can be used successfully for skull reconstruction.
Chromoblastomycosis caused by Alternaria infectoria, concurrent with myiasis, in a recipient of a kidney transplant: a compelling case report
Authors: Hamidreza Mahmoudi, Zahra Ramezanalipour, Mahmoud Khansari, Eelco F J Meijer, Shahram Mahmoudi, Bram Spruijtenburg, Abbas Rahimi Foroushani, Mohsen Gramishoar, Hasti Kamali Sarvestani
Journal: Front Med (Lausanne) (2024)
Keywords: alternaria, chromoblastomycosis, mycoses, neglected diseases, organ transplantation
MeSH terms: Case Reports

Neglected tropical diseases (NTDs) pose a significant threat to the health of millions of people worldwide, particularly in impoverished populations in tropical and subtropical regions. The World Health Organization (WHO) considers certain fungal infections, such as chromoblastomycosis, as NTDs. Chromoblastomycosis is a chronic fungal infection affecting the skin and subcutaneous tissue, primarily found in tropical and subtropical regions of Latin America, Africa, and Asia. This case report presents a 46-year-old female patient with chromoblastomycosis who had a history of renal transplantation and was receiving immunosuppressive therapy. The patient exhibited dark, verrucous, and ulcerative lesions on the legs, and the diagnosis was confirmed through the microscopic examination of skin scrapings by observing medlar bodies. Two sequential fungal tissue cultures and ITS sequencing verified the presence of Alternaria infectoria, not formerly described in chromoblastomycosis. Moreover, observation of fly larvae in the lesions verified the diagnosis of myiasis. Treatment with voriconazole and terbinafine resulted in complete resolution of the lesions after 5 months. This case emphasizes the importance of considering chromoblastomycosis in individuals with occupational exposure in tropical areas, as well as the challenges associated with its diagnosis, coinfections, and treatment.
Oxalate nephropathy and chronic turmeric supplementation: a case report
Authors: Onica Washington, Emily Robinson, Deetu Simh, Hemant Magoo, Ashish Verma, Helmut Rennke, Reza Zonozi
Journal: J Bras Nefrol (2024)
MeSH terms: Hyperoxaluria / chemically induced, Hyperoxaluria / complications, Renal Insufficiency / complications, Case Reports, Aged, Curcuma, Dietary Supplements / adverse effects, Humans, Male, Oxalates, Oxalates

We present a case of a 69-year-old man who presented for routine check-up and was incidentally found to have kidney failure with an initially unrevealing history and bland urinary sediment. He was diagnosed with oxalate nephropathy in the setting of chronic turmeric supplementation and chronic antibiotic therapy with associated diarrhea. Our case provides several key insights into oxalate nephropathy. First, the diagnosis requires a high index of clinical suspicion. It is uncommonly suspected clinically unless there is an obvious clue in the history such as Roux-en-Y gastric bypass or ethylene glycol poisoning. Diagnosis can be confirmed by histopathologic findings and corroborated by serum levels of oxalate and 24-hour urinary excretion. Second, the diagnosis can often be missed by the pathologist because of the characteristics of the crystals unless the renal pathologist has made it a rule to examine routinely all H&E sections under polarized light. This must be done on H&E, as the other stains dissolve the crystals. Third, one oxalate crystal in a routine needle biopsy is considered pathologic and potentially contributing to the AKI or to the CKD in an important way. Fourth, secondary oxalosis can be largely mitigated or prevented in many cases, especially iatrogenic cases. This can come through the surgeon or the gastroenterologist providing proper instructions to patients on an oxalate-restricted diet or other specific dietary measures. Lastly, this case highlights the success that results from cooperation and communication between the pathologist and the treating physician.