OpenMed/multicare-articles huggingface dataset:
A Challenging Case of Oral Ulcers and Gastrointestinal Bleeding: Crohn's or Behçet's Disease
Authors: Marina A S Dantas, Ana Luiza Graneiro, Rodrigo Cavalcante, Lina Maria Felipez
Journal: Case Rep Pediatr (2023)
MeSH terms: Case Reports

Introduction. Differentiating Crohn's disease (CD) and Behçet's disease (BD) with gastrointestinal (GI) manifestations can be clinically challenging, as current diagnostic criteria are not clear between both conditions and multiple symptoms could overlap. Case Presentation. The patient is an 8-year-old boy of Brazilian descent, who initially presented with a 1-year history of painful oral ulcers. Before presenting to the hospital, he had been treated for periodic fever, aphthous stomatitis, pharyngitis, and adenitis and placed on steroids, with relapsing symptoms on attempts to wean the doses. The initial workup was largely unremarkable. Buccal biopsies showed no granulomas, and the ophthalmologic exam was normal. Infectious and rheumatological tests were negative. Prometheus IBD sgi testing showed a pattern consistent with CD; however, the patient had multiple negative endoscopies, colonoscopies, and capsule endoscopies. He developed intermittent bloody stools and severe malnutrition and did not respond to infliximab, colchicine, or methotrexate. After a large GI bleed, a 4th colonoscopy was performed, which showed large round ulcers in the terminal ileum, and no granulomas. He was started on ustekinumab with clinical improvement. One month later, he developed bilateral hip effusion and meningismus, being diagnosed with aseptic meningitis secondary to COVID-19. He improved, but in one month developed worsening symptoms, and MRV showed extensive venous sinus thrombosis. The patient was started on enoxaparin, methylprednisolone, and colchicine, with resolution of the thrombus on a 3-month follow-up. The patient's overall symptoms remained controlled with clinical and biochemical remission on monthly ustekinumab. Discussion and Conclusion. Our patient had a challenging clinical course, with nonspecific systemic and intestinal manifestations which proved difficult to differentiate between BD and CD. Given endoscopic findings and the worsening of an auto-inflammatory reaction in the central nervous system after COVID-19 in a patient with controlled GI symptoms, the most likely diagnosis is BD.
A case of condyloma acuminatum of the bladder concurrently diagnosed with urothelial carcinoma
Authors: Ibuki Tsuru, Masaki Nakamura, Taro Izumi, Akihiro Ono, Sakiko Miura, Teppei Morikawa, Kazuyoshi Shigehara, Tadaichi Kitamura, Haruki Kume, Yoshiyuki Shiga
Journal: IJU Case Rep (2023)
Keywords: bladder, condyloma acuminatum, human papilloma virus, urothelial carcinoma
MeSH terms: Case Reports

Introduction:
Condyloma acuminatum usually occurs in the external genitalia and rarely in the bladder mucosa. Here, we report a case of condyloma acuminatum of the bladder that was detected concurrently with urothelial carcinoma.
Case presentation:
A 42-year-old man was referred to our urology department with positive urine cytology for urothelial carcinoma. Cystoscopy revealed a broad-base nonpapillary bladder tumor. The patient underwent a transurethral resection of the bladder tumor. Pathological examination revealed urothelial carcinoma, high-grade pT1, and concurrent resection of condyloma acuminatum. DNA was extracted from the paraffin-embedded transurethral resection of the bladder tumor tissue specimens. HPV11 was detected in condylomas by PCR and in situ hybridization, whereas HPV was not detected in urothelial carcinomas.
Conclusion:
We report a rare case of condyloma acuminatum of the bladder that was concurrently diagnosed with urothelial carcinoma from the same site.
Case report: Thoracic endovascular aortic repair using a non-touch exclusion technique with a custom-made device for the treatment of a large patent ductus arteriosus
Authors: Yaser Jenab, Hossein Salehi Omran, Kaveh Hosseini, Saeed Tofighi, Homa Ghaderian, Ismail Ates
Journal: Front Cardiovasc Med (2023)
Keywords: custom-made device, elderly pda, non-touch exclusion technique, patent ductus arteriosus, thoracic endovascular aortic repair
MeSH terms: Case Reports

Patent ductus arteriosus (PDA) is a common congenital heart disease affecting roughly one in every 2,000 term births. Although most of the patients are diagnosed and treated during childhood, few cases may persist into adulthood. We presented a 27-year-old male patient with a 20.2 mm diameter PDA who was referred to our hospital with progressive fatigue and exertional dyspnea. Given the potential complications, usual techniques such as coil occlusion and duct occluders were deemed inappropriate for this patient. Thoracic endovascular aortic repair (TEVAR) using a non-touch exclusion technique was successfully performed for this patient. The patient was discharged with no major post-surgical complications. TEVAR could be a new, safe, and effective alternative treatment to other transcatheter procedures for complicated PDAs in some patients.
Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
Authors: Yunhua Huang, Linlin Li, Liqiu Pan, Xiaoting Ling, Chenghan Wang, Chaoyu Huang, Yifang Huang
Journal: Front Genet (2023)
Keywords: slc26a4, compound mutations, non-syndromic enlarged vestibular aqueduct, pendrin, sensorineural hearing loss
MeSH terms: Case Reports

Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese patient with non-syndromic enlarged vestibular aqueduct (NSEVA) and to investigate the impact of variants on the severity of non-syndromic enlarged vestibular aqueduct. A male patient with NSEVA, aged approximately 6 years, was recruited for this study. The clinical characteristics and results of auxiliary examinations, including laboratory and imaging examinations, were collected, and 127 common hereditary deafness genes were detected by chip capture high-throughput sequencing. Protein structure predictions, the potential impact of mutations, and multiple sequence alignments were analyzed in silico. Compound heterozygote mutations c.1523_1528delinsAC (p.Thr508Asnfs*3) and c.422T>C (p.Phe141Ser) in the SLC26A4 gene were identified. The novel frameshift mutation c.1523_1528delinsAC produces a severely truncated pendrin protein, and c.422T>C has been suggested to be a disease-causing mutation. Therefore, this study demonstrates that the novel mutation c.1523_1528delinsAC in compound heterozygosity with c.422T>C in the SLC26A4 gene is likely to be the cause of NSEVA. Cochlear implants are the preferred treatment modality for patients with NSEVA and severe-to-profound sensorineural hearing loss Genetic counseling and prenatal diagnosis are essential for early diagnosis. These findings expand the mutational spectrum of SLC26A4 and improve our understanding of the molecular mechanisms underlying NSEVA.
Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children
Authors: Valerio Simonelli, Anna Rita Ferrari, Roberta Battini, Paola Brovedani, Emanuele Bartolini
Journal: Clin Neurophysiol Pract (2024)
Keywords: diagnosis, eeg, genetics, mtor, neurodevelopment, paediatric
MeSH terms: Case Reports

Introduction:
Pathogenic variants of the MTOR gene result in the Smith-Kingsmore syndrome, whose phenotypical spectrum includes facial dysmorphisms and neurological features. Expressivity is variable, patients exhibit a combination of intellectual disability, macrocephaly and epilepsy. The diagnosis can be missed, failing to detect the causative pathogenic mutation in patients with somatic mosaicism or even skipping to analyze MTOR when the phenotype is not completely expressed.
Case study:
Herein, we report two children harboring the same MTOR recurring mutation (c.5395G>A/p.Glu1799Lys) whose EEG displayed a peculiar combination of midline rhythmic waveforms and asynchronous spike-and-wave discharges with anterior fast activity in sleep and wake. Conclusion: We suggest these features might be considered as possible hallmarks of the syndrome and could aid to expedite the diagnosis when the phenotype is incomplete.
Description of a concurrent thyroid haemangioma and a follicular adenoma
Authors: Liezel Coetzee, Wilhelmina Conradie, Razaan Davis, Rubina Razack
Journal: SA J Radiol (2024)
Keywords: issva classification, pathology, radiology, thyroid, vascular proliferations
MeSH terms: Case Reports

Thyroid gland vascular proliferations pose a challenge to pathologists, radiologists and surgeons. This is illustrated in the case of a 36-year-old woman who underwent a diagnostic thyroid lobectomy for a suspected follicular neoplasm according to cytology. Histological diagnosis confirmed a follicular adenoma as well as a cavernous haemangioma or venous malformation.
Contribution:
Thyroid vascular lesions are rare. Evolving nomenclature and application of the International Society for the Study of Vascular Anomalies classification are discussed. Pertinent radiological clues are highlighted to pre-empt the diagnosis and avoid potential surgical complications.
Case report: Seropositive myasthenia gravis complicated by limbic encephalitis positive for antibodies to AMPAR and Lgi1
Authors: Magne Solberg Nes, Mette Haugen, Hans Kristian Haugland, Nils Erik Gilhus, Christian Alexander Vedeler
Journal: Front Neurol (2023)
Keywords: autoimmune encephalitis, immunology, myasthenia gravis, neuroimmunology, thymoma
MeSH terms: Case Reports

Objectives:
Autoantibodies to the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) and leucine-rich glioma-inactivated 1 (Lgi1) are associated with autoimmune encephalitis. We described an acetylcholine receptor (AChR)-positive patient with myasthenia gravis who developed limbic encephalitis with antibodies to AMPAR and Lgi1.
Methods:
A single-case report with detailed, prospective clinical and biomarker data including serial laboratory testing and histopathology.
Results:
A 49-year-old woman was diagnosed with anti-AChR antibody-positive generalized myasthenia gravis in 1983. After 9 months of the removal of thymoma in 1984, she developed influenza-like symptoms and then symptoms of limbic encephalitis. Retrospective analysis of serum showed high concentrations of anti-AMPAR and lower concentrations of anti-Lgi1 antibodies. Cerebral CT was normal, EEG showed bifrontal dysrhythmia, and CSF showed mild pleocytosis. Immuno-histochemical examination of the thymoma confirmed staining for Glur2, a subunit of AMPAR. The patient recovered with mild sequelae, but low levels of anti-AMPAR and anti-Lgi1 antibodies were detectable for over 25 years subsequently.
Discussion:
This case confirms earlier reports of AMPAR-associated autoimmune encephalitis co-occurring with thymoma and myasthenia gravis and is unique in its observational length. It shows, moreover, that antibodies to AMPAR and Lgi1 can persist despite clinical recovery.
Rheumatoid Arthritis With Multiple Lung Nodules: A Case Report
Authors: Mohammad A Alhajery
Journal: Cureus (2024)
Keywords: ct-guided biopsy, laboratory evaluation, lungs, nodule, rheumatoid arthritis
MeSH terms: Case Reports

Rheumatoid arthritis (RA) is an inflammatory multisystemic disease characterized by erosive arthritis with many extra-articular manifestations. Pleuropulmonary manifestations are frequently seen in patients with RA. Risk factors include male gender, severe erosive arthritis, high titers of rheumatoid factor, subcutaneous nodules, smoking, genetic predisposition, and the presence of other extra-articular manifestations of RA. We report a patient known to have RA presenting with multiple lung nodules. A 35-year-old female patient, known to have seropositive RA, was diagnosed 10 years ago. She was on oral corticosteroids (OCS) 5 mg daily, Upadacitinib 15 mg daily, and methotrexate (MTX) 20 mg weekly. The patient was referred for pulmonary medicine evaluation because of the finding of multiple lung nodules on chest imaging. A routine chest X-ray conducted as a part of the general evaluation showed a nodular opacity in the right lower lobe. Subsequently, a high-resolution CT (HRCT) scan of the chest was carried out and showed multiple pulmonary nodules. At the time of evaluation, she had no active respiratory symptoms with no signs of respiratory distress. As she was an active smoker, the decision was to proceed with a CT-guided biopsy besides full clinical, hematological, biochemical, and microbiological evaluations. The histopathological findings suggested a rheumatoid nodule with no evidence of malignant or infectious causes. No specific therapy was added at the time being, and the patient was monitored with regular follow-ups. Differentiation of rheumatoid lung nodules from other causes, such as malignancy and infectious causes, is essential. A biopsy with histopathological evaluation is a must in those with a high likelihood of malignancy, such as smokers. In addition to that, comprehensive clinical, hematological, microbiological, and radiological evaluations are required. Rheumatoid lung nodules are usually asymptomatic, with no specific therapy needed apart from the general management of RA with glucocorticoid, immunosuppressive, and biologic therapies.
Metastatic myxoid round cell liposarcoma of the buttock: a case report
Authors: Niare Ndour, Mamadou Sarr, Assane Diop, Mamadou Diouldé Kanté, Coumba Ndiaye, Astou Diouf, Fatou Diagne, Moussa Diallo, Fatimata Ly
Journal: Pan Afr Med J (2024)
Keywords: myxoid liposarcoma, buttock, case report, metastasis, round cell
MeSH terms: Liposarcoma, Myxoid / diagnosis, Liposarcoma, Myxoid / drug therapy, Liposarcoma, Myxoid / pathology, Skin Neoplasms / diagnosis, Skin Neoplasms / pathology, Case Reports, Antineoplastic Combined Chemotherapy Protocols / administration & dosage, Buttocks / pathology, Doxorubicin / administration & dosage, Fatal Outcome, Humans, Male, Middle Aged, Doxorubicin

Liposarcoma is a rare primitive mesenchymal tumor, developed at the expense of adipose tissue and with a preferential location in the thigh. We report an observation of liposarcoma in the buttock. A 56-year-old man, presented with a tumor of the right buttock for 2 years. Examination revealed an inflammatory, ulcerated tumor in the upper-external quadrant of the right buttock, measuring about 8 cm. Bilateral inguinal adenopathies were associated. The diagnostic hypotheses were: a squamous cell carcinoma, a cutaneous lymphoma, and cutaneous metastases. An anatomical examination confirmed the diagnosis of myxoid round-cell liposarcoma. The extension work-up appeared compatible with secondary pleuropulmonary, hepatic, cutaneous, and lymph node neoplastic localizations. The patient was treated with chemotherapy with the Adriamycin-carboplatin protocol. The evolution was rapidly fatal after a few weeks after the first course of chemotherapy. It should be evoked in front of any ulcerated tumor of the buttock.
Case report: Herbal treatment of neutropenic enterocolitis after chemotherapy for breast cancer
Authors: Peng Xu, Chaoxiong Cui, Yukun Liu, Kun Fang, Qitang Wang, Chao Liu, Ruixia Tan
Journal: Open Life Sci (2023)
Keywords: chinese herbal medicine, breast cancer, chemotherapy, neutropenic enterocolitis
MeSH terms: Case Reports

In this case report, a 53-year-old woman was diagnosed with severe NE after receiving chemotherapy for breast cancer. The patient with breast cancer was treated with a single cycle of docetaxel (140 mg) + epirubicin (130 mg) + cyclophosphamide (0.9 g) chemotherapy. However, the woman presented with symptoms of fatigue and diarrhea 5 days later accompanied with severe neutropenia according to the routine blood test. The computed tomography examination displayed the thickening and swelling of the colorectal wall. After the diagnosis of NE, the woman received antibiotics and supportive treatment, but her symptoms were not improved. The Chinese herbal medicine (CHM) diagnostic pattern was then designed for the patient. The patient was administered with two CHM decoctions. One decoction contained 24 kinds of herbal materials, and the other one was called pure ginseng decoction. These two decoctions were administered to the patient 2 or 3 times per day to tonify the spleen, nourish Qi and blood, and remove phlegm and damp heat symptoms. After the CHM treatment lasting for 10 days, the symptoms of the patient were improved, and she was discharged. In conclusion, CHM treatment played an indispensable role in curing the woman with chemotherapy-induced NE.
Recurrent Biatrial Myxomas in Carney Complex with a Spinal Melanotic Schwannoma: Advocacy for a Rigorous Multidisciplinary Follow-Up
Authors: Daniel Grandmougin, Teresa Moussu, Maxime Hubert, Benjamin Perin, Arthur Huber, Maria Christina Delolme, Juan-Pablo Maureira
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

A 31-year-old female patient with a previous history of Carney complex and surgical resection for cardiac myxoma and bilateral adrenalectomy at 18 years old and 10 and 11 years old, respectively, was referred to our department with a diagnosis of recurrent biatrial myxomas incidentally discovered on echography. A magnetic resonance imaging (MRI) confirmed the diagnosis of a tumor protruding into the left ventricle, and the patient underwent a surgical resection of a large left atrial mass and a right-sided atrial small tumor. Diagnosis of bilateral atrial myxomas was confirmed by histologic studies. Postoperative outcome was uneventful, and the patient was discharged at the 7th postoperative day. Few months later, she reported trivial clinical symptoms suspecting a cervical radiculopathy. MRI confirmed the presence of a compressive cervical spinal cord tumoral mass at the C2-3 level leading to perform a surgical exeresis of the tumor. Histology showed a spinal melanotic schwannoma. This case highlights the risk of unexpected ubiquitary tumor locations and the importance of a rigorous transversal multidisciplinary follow-up to prevent severe complications in patients with Carney complex.
A Rare Cause of Urinary Incontinence: Vesicouterine Fistula-A Case Report
Authors: Radu Viorel Dragos, Costache Radu Cristian, Onofriescu Mircea, Morosanu Corneliu, Onofrei Pavel, Bobeica Razvan Lucian, Tanasa Vasilache Ingrid, Tanase Adina, Popescu Dan
Journal: Womens Health Rep (New Rochelle) (2024)
Keywords: cesarean section, urinary incontinence, vesicouterine fistula
MeSH terms: Case Reports

Vesicouterine fistula is a rare complication occurring mainly after cesarean sections. We present here a particular case of vesicouterine fistula (VUF) whose only symptom was urinary incontinence. We describe the diagnostic methods used and the surgical treatment used to resolve the case. A 30-year-old woman presented to the gynecology clinic with urinary incontinence that occurred 5 days postoperatively after a cesarean section. The diagnosis was made on the basis of computed tomography and cystoscopy. Treatment was surgical and consisted of excision of the fistula and suturing of the bladder and uterine wall, without interposition of the omentum. Postoperative evolution was uneventful. When the urethral catheter was removed on the 14th postoperative day, the patient presented spontaneous micturition without vaginal urine leakage. In the context of urinary incontinence after cesarean section, although it is a rare complication, we must consider the occurrence of a VUF.
Invasive Fusarium rhinosinusitis in COVID-19 patients: report of three cases with successful management
Authors: Mahzad Erami, Shima Aboutalebian, Seyed Jamal Hashemi Hezaveh, Amir Hassan Matini, Mansooreh Momen-Heravi, Amir Hossein Ahsaniarani, Shirin Shafaee Arani, Mohsen Ganjizadeh, Hossein Mirhendi
Journal: Front Cell Infect Microbiol (2023)
Keywords: covid-19, fusarium, antifungal susceptibility testing, immunocompromised, rhinosinusitis
MeSH terms: COVID-19 / complications, Fusariosis / diagnosis, Fusariosis / drug therapy, Fusariosis / microbiology, Fusarium, Case Reports, Research Support, Non-U.S. Gov't, Antifungal Agents / therapeutic use, Humans, Sequence Analysis, DNA, Antifungal Agents

Invasive fungal rhinosinusitis (IFRS) is a life-threatening infection that can occur in immunocompromised patients, including those with COVID-19. Although Mucorales and Aspergillus species are the most common causes of IFRS, infections caused by other fungi such as Fusarium are rare. In this report, we present three cases of proven rhinosinusitis fusariosis that occurred during or after COVID-19 infection. The diagnosis was confirmed through microscopy, pathology, and culture, and species identification of the isolates was performed by DNA sequencing the entire ITS1-5.8 rRNA-ITS2 region and translation elongation factor 1-alpha (TEF-1α). Antifungal susceptibility testing was conducted according to CLSI guidelines. The causative agents were identified as Fusarium proliferatum, F. oxysporum + Aspergillus flavus, and F. solani/falciforme. Treatment involved the administration of antifungal medication and endoscopic sinus surgery to remove the affected mucosa, leading to the successful resolution of the infections. However, one patient experienced a recurrence of IFRS caused by A. flavus 15 months later. Early diagnosis and timely medical and surgical treatment are crucial in reducing mortality rates associated with invasive fusariosis. Additionally, the cautious use of corticosteroids in COVID-19 patients is highly recommended.
Intraosseous mucoepidermoid carcinoma of the mandible
Authors: Lucas Avondet, Roque Adan, Barbara M Berenstein, Gonzalo Zeballos, Nicole Brasquet, Ángeles Da Silva, Candela Bazan, Gisela Coliva, Ximena Garcia
Journal: Ecancermedicalscience (2023)
Keywords: intraosseous lesions, mandibular neoplasms, mucoepidermoid carcinoma, salivary glands
MeSH terms: Case Reports

Background:
Mucoepidermoid carcinoma starts in the salivary glands and accounts for 5%-10% of all salivary gland tumours. Its intraosseous occurrence is rare and only accounts for 2%-3% of all mucoepidermoid carcinomas. This neoplasm often follows a long and indolent course. Also, given its ambiguous presentation and similarities to other dental pathologies, it often has a late diagnosis. In this instance, we present the case of a patient with an asymptomatic mandibular lesion, who underwent mandibular resection and reconstruction with fibula free flap.
Case report:
A 32-year-old male patient reported discomfort when chewing, which was attributable to a self-detected mass localised in proximity to teeth 47 and 48. The lesion presented as a slight swelling without clear expression in the oral cavity mucosa. The rest of the physical examination revealed no abnormalities. Both the panoramic radiograph and computed tomography of the maxillary bones revealed lytic lesions in proximity to teeth 47 and 48, close to the mandibular angle. An incisional biopsy was performed, for which the pathological anatomy showed low-grade mucoepidermoid carcinoma. A resection was then performed, which involved a right hemimandibulectomy with ipsilateral cervical lymphadenectomy. The reconstruction was performed with a right fibula-free flap. Upon histological evaluation of the surgical specimen, an intermediate-grade mucoepidermoid carcinoma was found. The patient presented good post-operative evolution. Following a multidisciplinary assessment, the use of adjuvant radiation therapy was deemed necessary. The patient currently presents good evolution and has regular check-ups.
Conclusion:
Intraosseous mucoepidermoid carcinoma is a rare salivary gland tumour. Given its low frequency, there are no studies that accurately describe its biological behaviour and prognosis.