OpenMed/multicare-articles huggingface dataset:
Primary Wilms tumor of the urinary bladder
Authors: Mayur Parkhi, Srinivasan Peyam, Nitin James Peters, Kushaljit Singh Sodhi, Amita Trehan, Amanjit Bal
Journal: Autops Case Rep (2022)
Keywords: antineoplastic agents, cystectomy, urinary bladder, wilms tumor
MeSH terms: Case Reports

Wilms tumor (WT) can occur at various extrarenal sites; however, the urinary bladder as the primary site is occasional. A 4-year-old-female child presented with difficulty in micturition for the past month. The contrast-enhanced magnetic resonance imaging with magnetic resonance (MR) urography revealed a polypoidal, heterogeneous mass in the urinary bladder with no abnormality in the kidneys. Cystoscopy-guided biopsy was reported as an extrarenal Wilms tumor (ERWT) with triphasic components. Post-chemotherapy, a computed tomography scan revealed a residual tumor for which she underwent partial cystectomy. The diagnosis of ERWT was confirmed. She received adjuvant chemotherapy and remained well at the 9th month post completion of chemotherapy. The primary bladder WT must be considered in the differential of a small blue round cell tumor at an extrarenal site in the pediatric age group. The diagnosis is especially challenging in small biopsy material, although it has immense significance in management and prognosis.
Combining the Grisotti Flap With a Secondary Dermoglandular Pedicle for Partial Breast Reconstruction Following Contiguous Central-Inferior Segment Breast Cancer Excision
Authors: Charles M Malata, Isabel Jia Le See, Fawz Kazzazi, Parto Forouhi, Bruno Di Pace
Journal: Case Reports Plast Surg Hand Surg (2021)
Keywords: grisotti flap, breast-conserving surgery, central breast excision, oncoplastic surgery, partial breast reconstruction, secondary dermoglandular pedicles
MeSH terms: Case Reports

A 61-year-old patient (38DD) with multifocal invasive ductal carcinomas requested breast-conserving surgery. An innovative two pedicle combination using a laterally-based Grisotti flap and an inferomedially-based secondary pedicle was designed to reconstruct a combined central breast (NAC included) and inferior segment resection defect. Satisfactory cosmesis with clear resection margins was achieved.
Anovestibular fistula in an infant with retroviral infection - case report
Authors: Deepa Makhija, Hemanshi Shah, Charu Tiwari, Jayesh Desale
Journal: Dev Period Med (2017)
Keywords: acquired, anovestibular fistula, congenital, retroviral infection
MeSH terms: Rectal Fistula / complications, Retroviridae Infections / complications, Case Reports, Female, Humans, Infant, Rectal Fistula / congenital, Rectal Fistula / diagnosis, Rectal Fistula / surgery, Retroviridae Infections / diagnosis, Retroviridae Infections / surgery

A vestibular fistula with a normal anus is a rare subtype of anorectal malformation seen more often in East Asia and India. Though mostly congenital, some authors have suggested acquired etiologies for this condition. Infants with retroviral infection have been reported to develop acquired rectovestibular fistulas. We report a case of an infant anovestibular fistula in a patient with retroviral infection.
Case Report: Radiotherapy Plus Immunotherapy and Lenvatinib for the Treatment of Recurrent Hepatocellular Carcinoma With a Right Atrium and Inferior Vena Cava Tumor Thrombus
Authors: Yuting Qian, Long Gong, Su Li, Kun Mao, Xianming Li, Guixiang Liao
Journal: Front Oncol (2022)
Keywords: case report, hepatocellular carcinoma, immune checkpoint inhibitor, lenvatinib, radiotherapy
MeSH terms: Case Reports

Background:
The treatment of hepatocellular carcinoma (HCC) with right atrium (RA) and inferior vena cava (IVC) tumor thrombi is challenging, with the standard treatment being not well established. Immunotherapy plus antiangiogenic therapy is a potentially effective treatment for patients with advanced HCC. Here, we described the case of a patient with HCC with RA and IVC tumor thrombi who achieved a successful response from radiotherapy and targeted therapy plus immunotherapy.
Case summary:
A 62-year-old women presented with severe bilateral lower extremity edema identified as recurrent HCC with RA and IVC tumor thrombi based on past medical history and computed tomography. The patient received palliative radiotherapy plus pembrolizumab and lenvatinib treatment and was relieved of disease symptoms of bilateral lower extremity edema. The HCC with RA and IVC tumor thrombi shrunk, and the progression-free survival of this patient was > seven months.
Conclusion:
Tumor thrombus-directed radiotherapy plus concurrent immunotherapy and targeted therapy might be a feasible and safe approach for patients with HCC with RA and IVC tumor thrombi.
Liposarcoma of the nasopharynx: diagnosis and management of a rare diagnostic entity
Authors: George X Papacharalampous, Dimitrios Kikidis, Alexios Vasileiou, Aggeliki Bousiotou, Aristeidis Chrysovergis
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Liposarcoma is one of the most frequently occurring soft tissue sarcomas in adulthood. The majority of liposarcomas arise in the lower extremities and retroperitoneum, while the incidence of this tumor in the head and neck region is reported to be extremely low, comprising 1.8%-6.2% of all cases. Nasopharyngeal liposarcoma is exceptionally rare, with only three cases having been reported in the English literature. This paper presents a case of a nasopharyngeal liposarcoma, treated with endoscopic tumor debulking, followed by adjuvant chemotherapy and radiotherapy, and reviews the current literature with regard to diagnosis and management of such lesions. Most authors agree that the imaging modality of choice is magnetic resonance imaging. Although radiographic findings usually support diagnosis, the imaging characteristics of such lesions may considerably vary, depending on the histological subtype and the macroscopic appearance of the tumor. The treatment of choice is complete surgical excision when possible. Although the role of postoperative radiotherapy is not clearly defined, some authors support that radiotherapy might delay or prevent local recurrence. However, there is no adequate evidence that the combination of surgery and radiotherapy lowers the possibility of distant metastasis of the head and neck liposarcomas. The role of adjuvant or neoadjuvant chemotherapy still remains controversial.
Solitary facial lesion of orf: An unusual presentation
Authors: Muge Gore Karaali, Ayse Esra Koku Aksu, Asude Kara Polat, Mehmet Salih Gurel
Journal: North Clin Istanb (2021)
Keywords: face, orf, parapoxvirus
MeSH terms: Case Reports

Orf, ecthyma contagiosum, is a zoonotic viral infectious disease caused by parapoxvirus that affects particularly sheep and goats. Human may be infected with direct contact with contagious animals or by handling contaminated animal products. Lesions are localized mostly on the hands and fingers, but atypical localizations such as head or face have been rarely reported. Herein, we report a case of orf disease on the eyebrow with clinical follow-up images. Physicians should be aware of the possibility of this entity based on contact anamnesis with infected animals and clinical appearance.
Accidental Chronic Poisoning with Methotrexate; Report of Two Cases
Authors: Reza Bidaki, Mojgan Kian, Hamid Owliaey, Mojtaba Babaei Zarch, Masoud Feysal
Journal: Emerg (Tehran) (2017)
Keywords: methotrexate, case reports, emergency treatment, poisoning, skin ulcer, toxicity
MeSH terms: Case Reports

Methotrexate has been used widely in dermatology, oncology and rheumatology fields. However, methotrexate-induced mucocutaneous lesions may occur in rare cases. In this case presentation, we report two cases of accidental poisoning with methotrexate. They had accidentally used methotrexate instead of digoxin. This case report emphasizes that early diagnosis and appropriate management is critical in order to improve outcome.
Brief Research Report: "Nothing About Us, Without Us": A Case Study of the Outer Sanctum Podcast and Trends in Australian Independent Media to Drive Intersectional Representation
Authors: Kasey Symons, Sam Duncan, Emma Sherry
Journal: Front Sports Act Living (2022)
Keywords: the outer sanctum podcast, diversity, intersectionality, new media, podcasting, sports media

Alternative and independent sports media platforms create custom content that reflects a diversity of voices and representation of athletes, sports and issues that are not covered in meaningful ways in traditional sports media. While these new media outlets often set out to redress the lack of diversity and intersectional approaches to traditional sports media, they are also seeking ways to drive even more change. This in an interesting and important movement to interrogate as these platforms are not only predominantly unfunded, passion projects created by those marginalized groups. This brief research report provides a case study into this emerging alternative media space and its impact in driving change in an ever-evolving sports media landscape. We also discuss the problematic nature of intersectional-redressing work falling on those who still occupy the margins. This report uses a case study of an independent Australian rules football platform, The Outer Sanctum podcast, to focus on these key areas. The case study investigates how this outlet has worked to increase the visibility and profile of marginalized and underrepresented voices discussing football in new ways. It follows their journey as they have taken steps to improve their own diversity, enacting their mantra "nothing about us, without us," and proactively becoming more intersectional in their content producing journey. This research report will present key findings from the work of this media outlet to drive change and point to the learnings mainstream media can adopt to meaningfully embed intersectional approaches to sports media as core business.
Chronic Eosinophilic Leukemia Presenting as Cardiac Failure
Authors: Nii Boi-Doku Pepra-Ameyaw, William Kwasi Ghunney, Eugene Baafi Ampofo, Edeghonghon Olayemi
Journal: Case Rep Hematol (2022)
MeSH terms: Case Reports

Chronic eosinophilic leukemia (CEL) is a rare chronic myeloproliferative disorder characterized by sustained eosinophilia. Although the incidence of CEL is uncertain, it can be clinically devastating as it has a propensity to affect several important organ systems. This is of particular significance in Sub-Saharan Africa where helminthic infections are a more prevalent cause of eosinophilia. To the best of our knowledge, we present the first reported case of CEL complicated by cardiac disease in a Ghanaian. He presented with a history of orthopnoea and dyspnoea on exertion, and examination revealed a pansystolic murmur over the mitral region and moderate splenomegaly. Good symptomatic control was achieved using hydroxyurea after which haematologic and cytogenetic remission was achieved after 12 weeks on a tyrosine kinase inhibitor. Physicians working in low resource environments should exclude clonality in patients presenting with eosinophilia and end-organ damage.
Case Report: Disseminated Talaromyces marneffei Infection in a Patient With Chronic Mucocutaneous Candidiasis and a Novel STAT1 Gain-of-Function Mutation
Authors: Kuang Chen, Junfeng Tan, Shenxian Qian, Shenghai Wu, Qiong Chen
Journal: Front Immunol (2021)
Keywords: stat1, talaromyces marneffei, chronic mucocutaneous candidiasis, gain-of-function mutation, primary immune deficiency
MeSH terms: Candidiasis, Chronic Mucocutaneous / genetics, Candidiasis, Chronic Mucocutaneous / microbiology, Coinfection, Gain of Function Mutation, Mycoses / diagnosis, Mycoses / etiology, STAT1 Transcription Factor / genetics, Talaromyces, Case Reports, Research Support, Non-U.S. Gov't, Alleles, Biomarkers, Candidiasis, Chronic Mucocutaneous / diagnosis, Candidiasis, Chronic Mucocutaneous / drug therapy, DNA Mutational Analysis, Disease Susceptibility / immunology, Genetic Predisposition to Disease, Humans, Immunocompromised Host, Mycoses / drug therapy, Symptom Assessment, Biomarkers, STAT1 Transcription Factor, Talaromyces marneffei

Chronic mucocutaneous candidiasis (CMC) is a disorder of recurrent or persistent chronic noninvasive symptomatic infections of the skin, nails and mucous membranes. This disorder is primarily caused by Candida albicans. Many factors, including primary immunodeficiencies, can make a host more susceptible to CMC. Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations are the most common genetic etiologies of CMC. We describe a case of CMC with disseminated Talaromyces marneffei infection caused by a new pathogenic Y287N mutation at amino acid 287 in the coiled-coiled domain of STAT1, which was identified using whole-exome sequencing. Position 287 might be a hot spot for missense mutations because several amino acid substitutions were found there. Flow cytometry suggested that the Y287N mutation might reduce the expression of IL-17 of Th17 cells in peripheral blood mononuclear cells stimulated by phorbol myristate acetate and ionomycin. The STAT1 Y287N GOF mutation may be the direct cause of recurrent cutaneous and mucosal candidiasis, including the T. marneffei infection in this patient.
Primary giant hydatid cysts of the thigh and the gluteal region: a case report
Authors: Saber Rabhi, Jacem Saadana, Firas Chaouch, Youssef Othman, Makram Zrig, Mustapha Koubaa, Abderrazek Abid
Journal: Pan Afr Med J (2021)
Keywords: hydatid cyst, case report, giant, infection
MeSH terms: Albendazole / administration & dosage, Anthelmintics / administration & dosage, Echinococcosis / diagnosis, Case Reports, Aged, 80 and over, Buttocks / parasitology, Combined Modality Therapy, Echinococcosis / therapy, Female, Follow-Up Studies, Humans, Thigh / parasitology, Anthelmintics, Albendazole

Primary musculoskeletal echinococcosis is rare and accounts for 2-3% of the patients with hydatid disease. We report a case of giant primary hydatid cysts of the thigh and the gluteal region in an 82-year-old female, who presented with a painful multiple palpable mass. The diagnosis was confirmed by imaging and serology. Total resection was performed through an extended lateral approach of the thigh and intraoperative findings revealed infected giant hydatid cysts. The postoperative outcome was uneventful. Albendazole drug (400mg per day) was given for the next 3 months. At 6 months follow-up, the patient was satisfied with no complications or recurrence.
Influenza A Viral Infection with Septic Shock in Pregnancy
Authors: Soe Lwin, Myat San Yi, May Shi Leong, Haris Suharjono, Tin Moe Nwe
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

The influenza virus is RNA virus and is classified into four subtypes, influenza A, influenza B, influenza C, and influenza D. One of the subtypes of influenza A, the H1N1 strain, also known as swine flu, is especially of high risk for development of complications in pregnant women. The influenza A virus infection is difficult to diagnose clinically because its presenting symptoms are similar to those of the common cold but are more severe, last longer, and can be potentially life-threatening. This case also presented with common cold symptoms but her condition worsened later. Fortunately, obstetric health providers were vigilant enough to address the developing infection and its related complications. It was the cooperative effort of multidisciplinary team care which resulted in a favourable outcome in both mother and baby.
Osteochondroma Involving the Ramus of the Mandible: An Unusual Location
Authors: Pakki Suresh Kumar, Dola Srinivasa Rao, Swapna Manepalli, Ajit Damera, Jai Kiran Killada
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Osteochondroma (OC) is considered the most common tumor of the axial skeleton, although it is relatively uncommon in the craniofacial region. The present case describes an atypical case of OC in the posterior border of the ramus of the mandible. To the best of our knowledge, only one case has been reported till now in this region. A 35-year-old male patient reported with a complaint of swelling over the left middle one-third of the face and limited mouth opening for six years. Panoramic radiograph (PR) and paranasal sinus (PNS) view showed a well-defined radiopacity located in this region. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed a characteristic mushroom-shaped outgrowth from the inner surface of the ramus of the mandible. The patient was treated with osteotomy, with the cut made at the angle of the mandible. Histopathological examination revealed features suggestive of OC. Subsequently, the patient was able to open his mouth, and there was no evidence of recurrence or postoperative complications in the one-year follow-up.
Brucellosis causing bone marrow aplasia in an 11-year-old patient with complete recovery after treatment
Authors: Nour Youssef, Yolla Youssef, Dolly Noun, Miguel Abboud, Ghassan Dbaibo
Journal: IDCases (2022)
Keywords: aplastic anemia, brucellosis, pancytopenia, zoonotic infections
MeSH terms: Case Reports

Brucellosis is one of the most prevalent zoonotic infections in the Middle East. The disease may present with a range of symptoms from a simple febrile illness to severe invasive infections affecting different organ systems (meningitis, osteomyelitis). In this paper we present an eleven-year-old girl who was diagnosed with "idiopathic bone marrow aplasia" and planned for hematopoietic stem cell transplant (HSCT), when pre-transplant work-up showed high brucella titers. The patient was started on doxycycline, rifampin and gentamicin initially, with discontinuation of the latter 3 weeks into therapy. She recovered completely after 8 months of treatment.
Mycotic aortic aneurysms post-Intravesical BCG treatment for early-stage bladder carcinoma
Authors: Aman Wadhwani, Randy D Moore, Darshan Bakshi, Anirudh Mirakhur
Journal: CVIR Endovasc (2018)
Keywords: bcg, mycotic aortic aneurysms

Background:
Intravesicular Bacillus Calmette-Guérin (BCG) is an effective adjunctive therapy for superficial bladder cancer that has been shown to delay recurrence and progression of disease. Serious side effects are relatively rare but are difficult to diagnose and are often overlooked. Vascular complications are particularly rare.
Case presentation:
We report two cases of mycotic aortic aneurysms secondary to BCG treatment, one managed with endovascular stent-graft placement and the other with open surgical repair. The present understanding of disseminated BCGosis, including a literature review, will be discussed.
Conclusion:
The incidence of mycotic aneurysms from BCG treatment is rare and very few cases have been reported in the literature. These cases further expand the current knowledge on vascular complications related to BCG treatment. In the absence of formal guidelines, we recommend a multidisciplinary approach involving vascular surgery, diagnostic and interventional radiology, and infectious disease to manage these patients.
Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype
Authors: Jan Smetana, Vladimira Vallova, Marketa Wayhelova, Eva Hladilkova, Hana Filkova, Vera Horinova, Petr Broz, Aneta Mikulasova, Renata Gaillyova, Petr Kuglík
Journal: Front Genet (2021)
Keywords: ats-mr syndrome, xq223q23 deletions, genotype-phenotype analysis, neurodevelopmental disorders, trio-based whole exome sequencing
MeSH terms: Case Reports

Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopmental disorder (NDD), midface retrusion, and elliptocytosis. It is thought that ATS-ID is caused by the loss of function of COL4A5 (ATS) and FACL4 (ACSL4) genes through the interstitial (micro)deletion of chromosomal band Xq22.3. We report detailed phenotypic description and results from genome-wide screening of a Czech family with diagnosis ATS-ID (proband, maternal uncle, and two female carriers). Female carriers showed mild clinical features of microscopic hematuria only, while affected males displayed several novel clinical features associated with ATS-ID. Utilization of whole-exome sequencing discovered the presence of approximately 3 Mb of deletion in the Xq23 area, which affected 19 genes from TSC22D3 to CHRDL1. We compared the clinical phenotype with previously reported three ATS-ID families worldwide and correlated their clinical manifestations with the incidence of genes in both telomeric and centromeric regions of the deleted chromosomal area. In addition to previously described phenotypes associated with aberrations in AMMECR1 and FACL4, we identified two genes, members of tripartite motif family MID2 and subunit of the proteasome PA700/19S complex (PSMD10), respectively, as prime candidate genes responsible for additional clinical features observed in our patients with ATS-ID. Overall, our findings further improve the knowledge about the clinical impact of Xq23 deletions and bring novel information about phenotype/genotype association of this chromosomal aberration.
Oral Capecitabine Achieves Response in Metastatic Eccrine Carcinoma
Authors: Kristian Larson, Hani M Babiker, Andrew Kovoor, Joy Liau, Jordan Eldersveld, Emad Elquza
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

The low prevalence rate and limited literature on eccrine carcinoma (EC) pose a challenge to properly diagnosing and treating this rare malignancy. EC lesions tend to present similarly to other cutaneous neoplasms and dermatitis-like conditions. Efficacious treatment guidelines have not been established for patients diagnosed with EC, and few treatment regimens have demonstrated clinical benefit. Due to the high metastatic potential of EC, recognizing the clinical presentation, properly diagnosing, and utilizing beneficial treatment options are important for managing this disease. We report a case of a 66-year-old female who presented with lesions that her primary care provider misdiagnosed as basal cell carcinoma. The disease responded poorly to taxane- and platinum-based chemotherapies as well as an isolated limb perfusion of an alkylating agent. However, continuous dosing of oral capecitabine achieved an 18-month period of progression free survival (PFS) and ameliorated quality of life. We wish to highlight this rare disease and discuss presentation, diagnosis, and management as it is most often misdiagnosed leading to advanced metastatic disease when patients present to the oncologist. In addition, it is crucial to study and report potentially efficacious regimens considering the lack of clinical trials in this disease.