OpenMed/multicare-articles huggingface dataset:
Invasive splenic mucormycosis due to Rhizopus microsporus during chemotherapy for acute monocytic leukemia: a case report and literature review
Authors: Xiru Peng, Zixiu Wei, Lijuan Wang, Juan Cheng
Journal: Front Oncol (2023)
Keywords: rhizopus microsporus, amphotericin b, contrast-enhanced ultrasonography, invasive splenic mucormycosis, metagenomic next-generation sequencing
MeSH terms: Case Reports

Mucormycosis is a rare opportunistic fungal infection associated with high mortality that typically occurs in immunocompromised patients. It is difficult to diagnose owing to non-specific clinical manifestations, the serologic index, imaging features, and the limitations of diagnostic methods. The incidence of invasive splenic mucormycosis is extremely rare, with only a few cases documented in the literature. We report a survival case of invasive splenic mucormycosis involving the liver caused by Rhizopus microsporus in a patient during consolidation therapy for acute monocytic leukemia (AML-M5). The patient initially presented with recurrent fever and splenomegaly accompanied by multiple focal hypodensities unresponsive to empiric anti-infective treatment. Splenic mucormycosis was diagnosed by Contrast-Enhanced Ultrasonography (CEUS) and metagenomic next-generation sequencing (mNGS). However, surgical intervention carries a high risk due to the progressive involvement of the liver in invasive splenic mucormycosis. Fortunately, monotherapy with amphotericin B was effective, and the patient underwent allo-HSCT. This case aims to emphasize the importance of utilizing mNGS and CEUS for the timely diagnosis of mucormycosis to help clinicians identify splenic mucormycosis and initiate appropriate therapy as soon as possible to improve therapeutic efficacy and prognosis.
Role of POCUS in Assessing an Acute Aortic Thrombus
Authors: Zachary Boivin, Emily Mensel, Trent She
Journal: POCUS J (2023)
Keywords: aortic, pocus, bedside ultrasonography, thrombus presentation
MeSH terms: Case Reports

A 67-year-old female patient presented with abdominal pain with a recent diagnosis of paroxysmal atrial fibrillation. Computed tomography (CT) of the abdomen demonstrated a filling defect concerning for an aortic thrombus. Point of care ultrasound (POCUS) confirmed a mobile thrombus in the proximal abdominal aorta in close proximity to several major arterial branches, leading to urgent surgical consultation due to a concern for mesenteric and end-organ ischemia. POCUS played a role in determining patient management in this novel case, and the patient was anticoagulated and ultimately discharged from the hospital.
Effectiveness of cardiopulmonary bypass for radical resection of giant middle mediastinal paraganglioma
Authors: Nicola Rotolo, Andrea Imperatori, Luca Filipponi, Federica Torchio, Matteo Matteucci, Andrea Musazzi
Journal: J Cardiovasc Thorac Res (2024)
Keywords: cardiopulmonary bypass, mediastinal paraganglioma, mediastinal tumors
MeSH terms: Case Reports

A non-functional middle mediastinal paraganglioma is a rare entity. We describe a case of a 67-year-old woman with a diagnosis of a big mediastinal paraganglioma by endobronchial ultrasound transbronchial needle aspiration after chest CT and 18F-fluorodeoxyglucose positron-emission tomography. The nine centimeter in length tumor was located between the superior vena cava and the posterior portion of the ascending aorta, compressing the left atrium and the trachea and main left bronchus, posteriorly, surrounding the right pulmonary artery. Uniportal right video-thoracoscopic biopsy was unconclusive and complicated by severe hemorrhage, however controlled. Surgical resection was performed via a trans-sternal trans-pericardial approach followed by cardiopulmonary bypass and ascending aorta resection which allows an excellent exposure and greater control of great vessels and heart. Complete resection of the tumor was achieved without perioperative complication except for the left vocal cord palsy. Twelve months late the patient is disease free and in good general conditions.
Klippel-Trenaunay Syndrome: To Be or Not to Be Afraid
Authors: Gautam N Vekariya, Sudhir Singh, Sabha Neazee, Sugat Jawade, Amey R Gujrathi
Journal: Cureus (2024)
Keywords: bone and soft tissue hypertrophy, capillary-lymphatic-venous malformation, klippel-trenaunay syndrome, macrodactyly, port wine stain, sclerotherapy
MeSH terms: Case Reports

Klippel-Trenaunay syndrome (KTS) is a rare genetic syndrome comprising an abnormal development of soft tissues and the lymphovascular system with bony overgrowth, venous malformation, and port wine stains. We present an interesting case of a three-year-old child brought to our hospital with a swollen limb and raised skin lesions associated with bleeding from minor trauma. Most of the clinical characteristics of KTS were seen in our patient, including arteriovenous, soft tissue, capillary, and lymphatic abnormalities. The diagnosis of KTS is based on clinical examinations and imaging investigations. He had gross hypertrophy of the left lower limb with measurable lengthening compared to the opposite limb. Ultrasonography of the left limb revealed soft tissue hypertrophy with abnormal venous communication. The management of KTS is mainly symptomatic and should be approached conservatively if the patient has functional limbs without edema, bleeding, ulceration, or pain.
A Case of Interrupted Aortic Arch in an Adult: An Unsuspected Cause of Uncontrolled Hypertension
Authors: Abdi Dandena Dibaba, Abenezer Kebede Bekele, Selam Hagos Gebrewahd
Journal: Case Rep Radiol (2024)
MeSH terms: Case Reports

In this paper, we describe an incidentally discovered case of interrupted aortic arch in a 28-year-old male patient with a history of long-standing poorly controlled hypertension. The patient presented to the hospital with a complaint of upper respiratory complaints and long-standing chest pain. A plain chest radiograph was requested to exclude a diagnosis of pneumonia, and the radiography spotted an incidental finding of inferior rib notching. A subsequent CT angiography was done for further characterization, and a diagnosis of interrupted aortic arch was confirmed. Therefore, although rare, IAA should be considered in adults with refractory hypertension or unexplained congestive heart failure.
Case Report of snare-assisted coaxiality optimized technique during valve deployment in patient with pure aortic regurgitation
Authors: Jiwei Yu, Run Du, Fenghua Ding, Ruiyan Zhang, Zhengbin Zhu
Journal: Front Cardiovasc Med (2024)
Keywords: tavr, aortic valve stenosis, snare catheter, snare-assisted coaxiality optimized technique, transcatheter valve replacement
MeSH terms: Case Reports

In high-risk patients with pure native aortic regurgitation (PNAR), transcatheter aortic valve replacement (TAVR) remains an off-label intervention. Due to anatomical variations in the aortic root and technical challenges unique to PNAR, the transfemoral approach (TF-TAVR) requires continued accumulation of experience and technological refinement. In this context, we successfully and safely performed a snare-assisted TF-TAVR procedure for a patient with PNAR, characterized by significant aortic angulation. We introduced an innovative technique termed "snare-assisted coaxiality optimized technique" (SACOT) during valve deployment. SACOT played a crucial role in optimizing valve positioning, enhancing coaxiality, and achieving the ideal implantation depth for PNAR. Post-procedure assessments demonstrated stability and the absence of paravalvular regurgitation (PVR).
High-Intensity Transient Signals Detected in a Renal Allograft
Authors: Lea Kaadi, Christele Lahoud, Samir Hachem, Tarek Smayra, Kamal Hachem
Journal: Case Rep Transplant (2023)
MeSH terms: Case Reports

High-intensity transient signals (HITS) are signals recorded by the Doppler ultrasounds, reflecting either the passage of microemboli, both solid or gaseous in the vessels, or artifacts. Their identification during Duplex US highlights the need for further evaluation to rule out a potential embolic source. A 49-year-old female was referred to our hospital for renal transplantation. The Doppler ultrasound done on day 4 after the surgery revealed the presence of high-intensity transient signals (HITS) suggesting the passage of an emboli. Renal magnetic resonance angiography (MRA) confirmed the presence of peripheral parenchymal defects suggestive of a distal embolus. A better understanding and recognition of this radiological sign are essential in order to initiate appropriate patient management when needed. In this report, we review the importance of HITS and present a case in which HITS were detected in an unusual location: an allograft kidney artery.
Case report: MRI and CT imaging features of a melanocytic tumour affecting a cervical vertebra in an adult dog, and review of differential diagnosis for T1W-hyperintense lesions
Authors: Elli Elizabeth Michaelidou, Adriana Kaczmarska, Rodrigo Gutierrez-Quintana, Joanna Morris, Gawain Hammond, Ana Cloquell
Journal: Front Vet Sci (2024)
Keywords: melan-a, t1w hyperintensity, case report, cervical vertebra, melanocytic neoplasia, melanoma of unknown primary, melanotic schwannoma
MeSH terms: Case Reports

A 7-year-old Lhasa Apso presented with a history of left thoracic limb lameness and neck pain. Magnetic resonance imaging revealed a well-defined, extradural lesion that was hyperintense on T1-weighted (T1W) images and isointense on T2-weighted (T2W) images and T2* images located at the left lamina of the C4 vertebra. Computed tomography showed an isoattenuating and contrast-enhancing mass centered on the left C4 vertebral lamina with associated osteolysis. The mass was surgically debulked, and histopathology revealed a malignant melanocytic tumour. The patient recovered completely and received radiotherapy and three doses of the melanoma vaccine as adjunctive treatment. Eighteen months following treatment, the patient presented with neck pain again, but further investigations were declined at this stage, and the patient was euthanised. To the author's knowledge, this is the first case report describing the imaging characteristics of a cervical extradural melanocytic tumour in a dog. This case illustrates the MRI and CT imaging features and treatment of a canine melanocytic tumour of the cervical vertebrae.
Case Report: Portable handheld ultrasound facilitates intra-articular injections in articular foot pathologies
Authors: Samir Ghandour, Atta Taseh, Walter Sussman, Daniel Guss, Soheil Ashkani-Esfahani, Ashim Gupta, Gregory Waryasz
Journal: Front Pain Res (Lausanne) (2024)
Keywords: foot and ankle, intra-articular injections, metatarsophalangeal joint, portable ultrasonography, sports medicine, tarsometatarsal joint
MeSH terms: Case Reports

Background:
Intra-articular injections are commonly used to manage joint pathologies, including osteoarthritis. While conventional ultrasound (US) guidance has generally improved intra-articular injection accuracy, forefoot and midfoot joint interventions are still often performed without imaging guidance. This pilot study aims to evaluate the efficacy of office-based, portable ultrasound (P-US) guided intra-articular injections for forefoot and midfoot joint pain caused by various degenerative pathologies.
Methods:
A retrospective analysis was conducted on a series of consecutive patients who underwent P-US guided intra-articular injections following a chief complaint of forefoot or midfoot joint pain. Patients reported their pain levels using the Visual Analog Scale (VAS) pre-injection and at 3 months follow-up. The procedure was performed by an experienced foot and ankle surgeon using a linear array transducer for guidance, and a 25-gauge needle was used to inject a combination of 2 cc 1% lidocaine and 12 cc of Kenalog (40 mg/ml). Complications and pain scores were analyzed using a paired t-test and p < 0.05 was considered significant.
Results:
We included 16 patients, 31% male and 69% female with a mean age (±SD) of 61.31 (±12.04) years. None of the patients experienced immediate complications following the intervention. The mean pre-injection VAS score was significantly reduced from 5.21 (±2.04) to a mean of 0.50 (±1.32) at 3 months follow-up (P < 0.001). Thirteen patients reported complete resolution of pain at the 3-month follow-up. No adverse events were reported throughout the duration of the study.
Conclusion:
This pilot study suggests P-US-guided intra-articular injections offer a safe and effective method for managing forefoot and midfoot joint pain caused by various arthritic pathologies. Further research is warranted to establish the long-term efficacy and comparative effectiveness of P-US-guided injections in larger patient cohorts as compared to non-image guided injections.
Case Report: Non-negligible Epstein-Barr virus-associated posttransplant lymphoproliferative disorders in a lung transplant recipient
Authors: Juan Hu, Yong-Wei Yu, Dong-Sheng Han, Xue-Jie Li, Yi-Qi Zhang, Hong-Liu Cai, Yong-Hong Xiao, Xia Zheng
Journal: Front Immunol (2023)
Keywords: epstein-barr virus, immunosuppression, invasive fungal disease, lung transplant, posttransplant lymphoproliferative disorders
MeSH terms: Epstein-Barr Virus Infections / complications, Epstein-Barr Virus Infections / diagnosis, Epstein-Barr Virus Infections / drug therapy, Lung Transplantation / adverse effects, Lymphoproliferative Disorders / diagnosis, Lymphoproliferative Disorders / drug therapy, Lymphoproliferative Disorders / etiology, Case Reports, Research Support, Non-U.S. Gov't, DNA / therapeutic use, Herpesvirus 4, Human / genetics, Humans, Lung / diagnostic imaging, Male, Middle Aged, Transplant Recipients, DNA

Background:
Posttransplant lymphoproliferative disorders (PTLDs) are uncommon but serious complications in patients following solid organ transplantation. Primary Epstein-Barr virus (EBV) infection is a risk factor for the development of PTLD, especially early-onset PTLD, in EBV-negative recipients. To date, however, there are no specific guidelines on the threshold of EBV-DNA load for therapeutic intervention, the source for measurement (e.g., blood, bronchoalveolar fluid), or the use of antiviral agents as prophylaxis for early PTLD prevention in EBV-mismatched patients.
Methods:
The present study describes a 56-year-old male lung transplant recipient diagnosed with EBV-associated PTLD.
Results:
This patient had a history of invasive fungal disease and Mucor and Aspergillus fumigatus infections in the early post-transplant period, necessitating antifungal therapy throughout the course of the disease. The patient was EBV-positive 15 days after transplantation, with lung CT showing multiple bilateral nodules of varying sizes beginning 98 days after transplantation. A lung biopsy showed PTLD, and next-generation sequencing (NGS) revealed EBV. This patient, however, did not receive any antiviral therapy for early PTLD prevention or any PTLD-related treatment. He died 204 days after lung transplantation.
Conclusion:
The present study describes a lung transplant recipient who developed EBV-associated PTLD, a non-negligible disease, after solid organ transplantation. Monitoring EBV-DNA load is important, as a sudden increase may be a sensitive indicator of PTLD. An earlier diagnosis may increase the likelihood of successful treatment.
Ocular tuberculosis masquerading as atypical ocular toxoplasmosis
Authors: Albert John Bromeo, Sweet Jorlene Lerit, Cheryl Arcinue
Journal: GMS Ophthalmol Cases (2023)
Keywords: masquerade syndrome, retinitis, toxoplasmosis, tuberculosis, uveitis
MeSH terms: Case Reports

Ocular tuberculosis is a great mimicker of various uveitis entities. We present a case of a 29-year-old male who came in with blurring of vision and floaters in the left eye. On examination, the left eye had anterior chamber cells and vitritis associated with retinitis. He had no other symptoms. The initial presentation was consistent with ocular toxoplasmosis, and he was started on oral sulfamethoxazole-trimethoprim and showed a good response to the treatment. However, work-up revealed negative toxoplasma antibody titers but a positive M. tuberculosis interferon-gamma release assay test and Mantoux test, making the diagnosis of ocular tuberculosis more likely. The patient was shifted to antituberculous therapy, which eventually resulted in the resolution of the inflammation with a recovery of the visual acuity. The diagnosis of ocular tuberculosis requires a detailed medical history as well as microbiologic and immunologic studies. A high index of suspicion by the treating ophthalmologist is necessary to reveal the diagnosis.
Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII
Authors: Ying Chen, Xinyu Wang, Na Ji, Qi Fang, Xin Chang, Meirong Liu
Journal: Front Genet (2024)
Keywords: pfkm, case report, compound heterozygous mutations, glycogen storage disease type vii, hemolysis
MeSH terms: Case Reports

Glycogen Storage Disease Type VII (GSD VII) is a rare glycogen metabolism disorder resulting from mutations in the PFKM gene, inherited in an autosomal recessive manner. It is characterized by exercise intolerance, muscle cramps, myoglobinuria, compensatory hemolysis, and later onset de novo myasthenia and mild myopathy, contributing to its clinical heterogeneity and diagnostic challenges. Here, we report a rare case of a 17-year-old Chinese woman exhibiting substantial muscle weakness and compensated hemolysis. Muscle biopsies showed glycogen deposition, and blood tests showed hyperuricemia and significantly elevated creatine kinase. Whole genome sequencing (WGS) and whole exome sequencing (WES) identified two compound heterozygous mutations in the PFKM (NM_000289.6) gene: c.626G>A and c.1376G>A in exons 7 and 15, respectively. According to the clinical presentation, diagnostic examination, and WES results, the patient was finally diagnosed with GSDVII. The discovery of these two new PFKM mutations expands the genetic spectrum, and understanding the clinical manifestations of these mutations is critical to preventing diagnostic delays and timely intervention and treatment.
Case report: Management of generalized infection and draining tracts of the frontomaxillary region in a dog
Authors: Elias Wolfs, Ching Ching Shirley Kot, Natalia Vapniarsky, Boaz Arzi
Journal: Front Vet Sci (2024)
Keywords: axial pattern flap, computed tomography, draining tract, fistula, skull
MeSH terms: Case Reports

Objective:
This study aims to report the surgical and medical management of generalized chronic maxillofacial infection with multiple intra- and extraoral draining tracts in a dog.
Case summary:
A 6 years-old, male neutered pit bull terrier dog underwent a staged procedure. First, a diagnostic work-up including hematologic and biochemical analysis, conventional computed tomography (CT) with contrast of the skull, and a rhinoscopic evaluation of the draining tracts was performed. Samples were obtained for histopathological, microbial, and fungal testing. Second, a 4 week course of antimicrobials based on culture and sensitivity results was administered. Third, an extraoral approach to soft tissue reconstruction was accomplished as a first stage in the repair process. Finally, an intraoral approach to repair the oronasal fistulous draining tracts was performed. A 6 months follow-up skull CT revealed various stages of repair and remodeling and adequate soft tissue healing.
Clinical relevance:
A staged procedure is a suitable option to treat chronic and generalized frontal and maxillary infection with multiple intra- and extraoral fistulous draining tracts in dogs.
Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate Hydratase
Authors: Solaleh Aminian, Fawaz Al-Alloosh, Fatemeh Yadegari, Shiva Zarinfam, Haider Hamza Al-Abedi, Keivan Majidzadeh-A
Journal: Case Rep Genet (2024)
MeSH terms: Case Reports

Multiple primary cancers (MPCs) are defined as the presence of more than one cancer in an individual that is not due to recurrence, metastasis, or local spread. Different factors such as copathogenic genetic mutations, environmental factors, lifestyle, and first cancer treatment increase the possible occurrence of subsequent malignancies. In recent years, the risk of MPCs has increased due to improved treatment; however, quadruple primary malignancies are still rare and require further investigation and treatment of the underlying cause. Here, we present a 64-year-old man with a 40-year history of cigarette smoking who developed quadruple primary malignancies of the epiglottis, kidney, pancreas, and lung. To investigate the possible genetic cause, we performed WES, and a variant of c.580G > A (Ala194Thr) was discovered in exon 5 of the Krebs cycle enzyme gene, fumarate hydratase (FH). This substitution was classified as VUS in Clinvar and likely pathogenic by Varsome and Franklin software. The structural analysis showed that the variation found was localized in a highly conserved alpha helix in the D2 domain near the FH hinge region (<6 Å), suggesting that enzyme activity was affected by a perturbation in protein quaternary structure. Because of the well-established role of FH mutations in renal cancer risk, it was possible that the FH mutation could have led to the development of renal cell carcinoma in this case. The biological mechanisms of MPCs suggest that subsequent primary malignancies are triggered by the combined effects of environmental factors, such as smoking and genetics.
Bullous Hemorrhagic Dermatosis Induced by Enoxaparin: About a Case in Madagascar
Authors: Fenohasina Rakotonandrasana, Fandresena Arilala Sendrasoa, Andrianandrianina Mbolatiana Kiady Armando Rakotomanana, Herin'Ny Fitiavana Princia Andriatahina, Voahanginirina Nathalie Ralimalala, Samson Léophonte Ramily, Moril Sata, Onivola Raharolahy, Malalaniaina Andrianarison, Irina Mamisoa Ranaivo, Lala Soavina Ramarozatovo, Fahafahantsoa Rapelanoro Rabenja
Journal: Case Rep Dermatol Med (2023)
MeSH terms: Case Reports

Bullous hemorrhagic dermatosis is an adverse reaction occurring within 5 to 21 days after anticoagulation; the diagnosis is to be evoked in the presence of hemorrhagic bullous lesions at a distance from the injection site in the days following the introduction of anticoagulant; this is a diagnosis of exclusion. It is a rare pathology that mainly affects the elderly. A 54-year-old man presented with bullous hemorrhagic lesions on the left upper limb starting at the 4th day after enoxaparin injection, diagnosed as a bullous hemorrhagic dermatosis induced by enoxaparin. We report the first case of bullous hemorrhagic dermatosis induced by enoxaparin in Madagascar.