OpenMed/multicare-articles huggingface dataset:
Progressive Diffuse Osteonecrosis in a Patient with Secondary Hemophagocytic Lymphohistiocytosis
Authors: Takashi Takahashi, Jeffrey Rykken
Journal: Case Rep Radiol (2015)

This is a case report with serial imaging showing progression of diffuse osteonecrosis in a patient after a diagnosis of secondary hemophagocytic lymphohistiocytosis (HLH). While bone marrow involvement in HLH has been long noted at histological evaluation and is itself one of the diagnosis criteria, to the best of our knowledge, there has been no previous publication addressing osseous image findings in a patient with HLH.
Case report: Desmoid fibromatosis diagnosed in a 27-year-old male after being mistaken for a gastrointestinal stromal tumour
Authors: Larissa Albino, Yimeng Guo, Julinor Bacani, Cheryl Mather, Jan-Erick Nilsson, Levinus A Dieleman
Journal: Front Med (Lausanne) (2022)
Keywords: gist, case report, desmoid fibromatosis, desmoid tumour, gastrointestinal stromal tumour
MeSH terms: Case Reports

Despite being distinct lesions, gastrointestinal stromal tumours (GISTs) and desmoid fibromatosis may appear similar on imaging when they involve the stomach wall or bowel. As a result, they may be confused with one another when initially diagnosed. This report aims to present a case where a desmoid tumour was mistaken for a gastric GIST in a 27-year-old gentleman despite extensive investigation prior to exploratory laparotomy, and why differentiation through pathology, with a focus on the immunohistochemistry profile, is key for proper prognostication and appropriate management, including timely investigation for associated diseases such as Familial Adenomatous Polyposis in patients with desmoid tumours.
Case Report: Importance of MRI Examination in the Diagnosis and Evaluation of COVID-19 mRNA Vaccination Induced Myocarditis: Our Experience and Literature Review
Authors: Keita Watanabe, Takashi Ashikaga, Yasuhiro Maejima, Susumu Tao, Mao Terui, Tetsuya Kishigami, Masakazu Kaneko, Ryota Nakajima, Shinichiro Okata, Tetsumin Lee, Tomoki Horie, Masashi Nagase, Giichi Nitta, Ryoichi Miyazaki, Sho Nagamine, Yasutoshi Nagata, Toshihiro Nozato, Masahiko Goya, Tetsuo Sasano
Journal: Front Cardiovasc Med (2022)
Keywords: covid-19, cardiac mri, case report, case series, mrna vaccination, myocarditis, review
MeSH terms: Case Reports

Acute myocarditis is a rare but serious complication associated with mRNA-based coronavirus disease 2019 (COVID-19) vaccination. In this article, four COVID-19 mRNA vaccination induced myocarditis cases managed at our tertiary Medical Center have been discussed. Three patients had typical myocarditis. One patient suffered from atrioventricular block and heart failure, which required more intensive treatment, but eventually improved. Additionally, a review of cardiac magnetic resonance imaging (MRI) features related to the diagnosis of myocarditis showed that COVID-19 mRNA vaccine-associated myocarditis tend to have more late-gadolinium enhancement (LGE) accumulation in the inferior lateral wall direction. According to a report by the U.S. Centers for Disease Control and Prevention (CDC), the diagnosis of COVID-19 mRNA vaccine-associated myocarditis is based on clinical symptoms, altered myocardial enzymes, cardiac MRI finding, or histopathology. Cardiac MRI is relatively less invasive than myocardial biopsy and plays an important role in the diagnosis of myocarditis. This review may aid in the diagnosis of COVID-19 mRNA vaccine-associated myocarditis.
Esthetic Rehabilitation through Crown Lengthening Surgery and Conservative CAD/CAM Veneers: A Multidisciplinary Case Report
Authors: Leandro Passos, Fernando Peixoto Soares, Mauricio Gallo
Journal: Case Rep Dent (2016)

This case report describes a successful multidisciplinary approach used to improve the smile esthetics of a patient presenting with excessive gingival display, asymmetric gingival margins, and small upper anterior teeth and lower anterior teeth. The treatment combined esthetic crown lengthening, dental bleaching, and restorative dentistry using CAD/CAM veneer. The 6-month follow-up examination confirmed the stability of the modification and absence of adverse effects.
Aggressive breast fibromatosis following augmentation mastoplasty: a series of case reports
Authors: Rafael Delgado Morales, Armando Gil Mendoza, Carmen Luces, Efren Bolívar Abreu, Gabriel Romero, Gabriel Pérez, Leonardo Russo
Journal: Ecancermedicalscience (2018)
Keywords: aggressive fibromatosis, augmentation mastoplasty
MeSH terms: Review

Aggressive fibromatosis comprises connective tissue tumours that represent 0.03% of all bodily neoplasms, occurring more often in the abdominal wall, mesentery, and extremities; its location in the breast constitutes a very infrequent type of lesion. Its pathogenesis is diverse and its relationship with augmentation mastoplasty is still unclear. Four cases of aggressive breast fibromatosis following augmentation mastoplasty are reported in this article.
Primary small bowel liposarcoma (atypical lipomatous tumour) with myogenic differentiation
Authors: J Patel, R Deb, W Speake, T A Macculloch
Journal: Sarcoma (2010)
MeSH terms: Case Reports

Primary small intestinal liposarcomas originating in the small bowel are uncommon with a generally poor prognosis due to the advanced stage at the time of diagnosis. We describe a case of primary small bowel dedifferentiated liposarcoma presenting as a solid mass in the right iliac fossa. The current case is unusual as the tumour seemingly originated from the bowel and the well-differentiated component was seen extensively infiltrating the bowel wall including the small bowel submucosa.
Primary Myelofibrosis Presenting as Extramedullary Hematopoiesis in a Transplanted Liver Graft: Case Report and Review of the Literature
Authors: Ghulam Rehman Mohyuddin, Abdulraheem Yacoub
Journal: Case Rep Hematol (2016)

Primary myelofibrosis (PMF) commonly results in extramedullary hematopoiesis (EMH) in the spleen and liver as well as a variety of other organs. We present a first report of a unique presentation of PMF in a liver transplant recipient patient as EMH in the transplanted liver graft. A 76-year-old man with history of cryptogenic cirrhosis received cadaveric liver transplantation in 1996. He maintained a normal graft function and stable hematologic parameters until 2013 when he presented with anemia and progressive fatigue. Extensive work-up did not identify the etiology of the recent decline in his hemoglobin; thus a liver biopsy was done which showed findings of EMH within the sinusoids with increased megakaryocytes, some with atypical morphology. A BM biopsy revealed a hypercellular marrow, moderately increased reticulin fibrosis, and features consistent with primary myelofibrosis. Abdominal imaging showed a normal-size spleen and did not identify any sites of EMH outside of the liver. The diagnosis of myelofibrosis was thus made, and this case demonstrated predominant tropism to a transplanted liver graft with absence of EMH elsewhere. We would thus like to emphasize that findings of EMH in subjects with no preexisting hematologic neoplasm should warrant close follow-up and assessment.
Effective Treatment of a Malignant Breast Phyllodes Tumor with Doxorubicin-Ifosfamide Therapy
Authors: Shinya Yamamoto, Shigeru Yamagishi, Toshiro Kohno, Ryosuke Tajiri, Toshikazu Gondo, Noboru Yoshimoto, Nobuko Kusano
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Malignant phyllodes tumors of the breast occur infrequently and are difficult to treat with chemotherapy. Here, we present an effective chemotherapy strategy for recurrent malignant breast phyllodes tumors. A 48-year-old woman was diagnosed with a malignant phyllodes tumor in her right breast and underwent total right mastectomy. One year later, the tumor recurred in the right (a 2.2 cm mass) and left (a 10 cm mass) lungs; pleural effusion was also observed in the left lung. Eight courses of doxorubicin-ifosfamide (AI) therapy were administered. After treatment, the right lung mass and pleural effusion regressed completely and the left lung mass regressed to 2 cm. In conclusion, AI therapy is useful for treating recurrent malignant breast phyllodes tumors.
Open abdomen management and outcomes: two case reports from western Kenya and a review of literature from Africa
Authors: Clifford Mwita, Ruth Negesa, Marissa Boeck, Andrew Wandera
Journal: Pan Afr Med J (2019)
Keywords: open abdomen, sub-saharan africa, laparostomy
MeSH terms: Abdomen / surgery, Abdominal Cavity / surgery, Anastomosis, Surgical / adverse effects, Peptic Ulcer Perforation / surgery, Case Reports, Review, Adult, Fascia, Humans, Kenya, Male, Retrospective Studies, Stomach Ulcer / complications, Stomach Ulcer / surgery, Treatment Outcome, Young Adult

The open abdomen (OA) is clinically indicated for attenuating the effects of select intra-abdominal insults that may lead to high intra-abdominal pressure with fascial closure. Despite the high incidence of conditions warranting OA in Africa, there are few reports on its use and outcomes. A retrospective chart review was performed for two patients managed with an OA at the Moi Teaching and Referral Hospital. For comparison, a literature review on related studies from Africa was performed. One patient had an anastomotic leak, while the other had a perforated gastric ulcer. A Bogotá bag was used for temporary abdominal content containment. There was no mortality in our series and fascial closure was achieved in one patient. Upon review of studies from Africa, overall mortality stood at 44%, while 25% of surviving patients underwent fascial closure. The use of OA in Africa is associated with high mortality and low rates of fascial closure. Our limited experience shows this technique is a viable treatment option in an attempt to bridge a patient to abdominal closure during critical illness.
Treated for psychosis and presenting with prominent speech and language abnormalities: A case report of an adult with a frontal lobe teratoma
Authors: Gian Lippi, Elna Naude
Journal: S Afr J Psychiatr (2016)
MeSH terms: Case Reports

We report on a rare case of an adult presenting with psychotic symptoms, including prominent thought form disorder and an aphasia. Further investigation revealed the presence of a mature teratoma in the left frontal lobe, which could have played a pathophysiological role in the development of both the psychosis and the language impairment.
Sarcoidosis in the setting of combination ipilimumab and nivolumab immunotherapy: a case report & review of the literature
Authors: Joshua E Reuss, Paul R Kunk, Anne M Stowman, Alejandro A Gru, Craig L Slingluff Jr, Elizabeth M Gaughan
Journal: J Immunother Cancer (2016)
Keywords: checkpoint inhibitor, combination immunotherapy, immune-related adverse event, ipilimumab, metastatic melanoma, nivolumab, sarcoidosis

Background:
We report a case of sarcoidosis in a patient with metastatic melanoma managed with combination ipilimumab/nivolumab. Sarcoid development has been linked with single agent immunotherapy but, to our knowledge, it has not been reported with combination ipilimumab/nivolumab treatment. This case raises unique management challenges for both the melanoma and the immunotherapy-related toxicity.
Case presentation:
A 46 year old Caucasian female with M1c-metastatic melanoma was managed with ipilimumab/nivolumab combination. Patient experienced response in baseline lesions but developed new clinical and radiographic findings. Biopsy of new lesions at two different sites both demonstrated tumefactive sarcoidosis. Staining of the biopsy tissue for PD-L1 expression demonstrated strong PD-L1 staining of the histiocytes and lymphocytes within the granulomas. Monotherapy nivolumab was continued without progression of sarcoid findings or clinical deterioration.
Conclusions:
Tissue biopsy for evaluation of new lesions on immunotherapy is an important step to help guide decision making, as non-melanoma lesions can mimic disease progression.
Community-acquired infection with hypervirulent Clostridium difficile isolates that carry different toxin and antibiotic resistance loci: a case report
Authors: Marina Muñoz, Milena Camargo, Dora Inés Ríos-Chaparro, Paula Gómez, Manuel Alfonso Patarroyo, Juan David Ramírez
Journal: Gut Pathog (2017)
Keywords: antibiotic resistance, clostridium difficile, hypervirulent strain, toxigenic profiles
MeSH terms: Case Reports

Background:

Clostridium difficile infection (CDI) leads to the onset of antibiotic-associated diarrhea (AAD) and a wide range of gastrointestinal pathologies. Currently, CDI is one of the most important opportunistic infections at the intrahospital level and an exponential increase in community-acquired infections has been reported. Herein, we evaluated the relationships (at phylogenetic and genetic population structure levels), as well as the molecular toxigenic and antibiotic resistance profiles of a set of isolates established from a case of community acquired-CDI.
Case presentation:
A 30-year-old woman with no history of hospitalization who was exposed to antibiotics (ampicillin/sulbactam and metronidazole) after a cat-bite wound was presented. The patient had a continuous episode of diarrhea; a stool sample was then collected and community acquired-CDI was confirmed by molecular tests and in vitro culture. Seven isolates were established and subsequently subjected to: (i) Multilocus sequence typing, all isolates belonging to ST-1 (associated with hypervirulent strain (027/BI/NAP1); (ii) description of their toxigenic profile: two of the isolates (Gcol.49 and Gcol.91) were positive for the genes coding for the major toxins (tcdA and tcdB) and their negative regulator (tcdC). All isolates were positive for the cdtB gene encoding one of the binary toxin subunits, while only two (Gcol.51 and Gcol.52) were positive for cdtA; and (iii) identification of antibiotic resistance molecular markers, where there was no difference in gyrA or gyrB gene polymorphisms (related to quinolone resistance), but rather at loci presence/absence, being just one isolate negative, whereas the others showed a differential presence of the tet, ermB and Tn916 regions. The former was associated with resistance to tetracycline and the other two for erythromycin/clindamycin.
Conclusions:
This case represents the first report of community acquired-CDI in Colombia associated with hypervirulent strains and shows that isolates obtained from a single patient can carry different toxin and antibiotic resistance loci.
CD7 Positive Diffuse Large B-Cell Lymphoma Arising in a Background of Follicular Lymphoma: A Case Report and Review of the Literature
Authors: Elham Vali Betts, Hooman H Rashidi
Journal: Case Rep Hematol (2016)

Diffuse large B-cell lymphoma (DLBCL) is a neoplasm of large B-lymphocytes with a diffuse growth pattern. The neoplastic cells express B-cell markers such as CD20 and PAX-5 and there may be coexpression of BCL-2, BCL-6, CD10, and MUM-1. With the exception of CD5, other T-cell markers are not commonly expressed in this neoplasm. Here, we describe the first reported case of a DLBCL with abnormal expression CD7 arising in a background of follicular lymphoma in an 81-year-old male who presented with a nontender left axillary mass. Additionally, no other T-cell antigens were expressed in this B-cell lymphoma. Expression of CD7 in DLBCL is exceptionally rare and its prognostic significance is unknown. Here, we describe this rare case with review of literature of known DLBCLs with expression of T-cell antigens.
Changes in Neutrophil to Lymphocyte Ratio, Lymphocyte to Monocyte Ratio, and Platelet to Lymphocyte Ratio During Palliative Radiotherapy May Predict Efficacy of Immune Checkpoint Inhibitor as Re-Challenge Treatment in Advanced Gastric Cancer: A Case Report
Authors: Jianxin Chen, Xilin Wu, Shijian Zhu, Junhui Wang
Journal: Front Oncol (2022)
Keywords: gastric cancer, lymphocyte to monocyte ratio, neutrophil to lymphocyte ratio, programmed death-1 inhibitor, re-challenge
MeSH terms: Case Reports

Introduction:
Immunotherapy with programmed death-1 (PD-1) inhibitors has emerged as frontline option in patients with advanced or metastatic gastric cancer. However, two-thirds of patients who received PD-1 inhibitors treatment still had disease progression in 1 year. Subsequent treatment strategies as salvage options always lead to limited efficacy.
Case description:
Herein, we presented a case of recurrent metastatic gastric adenocarcinoma that had progressed on first-line treatment with nivolumab, in which systematic inflammation parameters with neutrophil to lymphocyte ratio (NLR), lymphocyte to monocyte ratio (LMR), and platelet to lymphocyte ratio (PLR) were significantly changed by palliative radiotherapy on metastatic lymph nodes. The patient achieved persistent response to the re-challenge of immune checkpoint inhibitor, which resulted in survival time reaching 52 months, and is still in extension.
Conclusions:
We supposed that the palliative radiotherapy may lead to the correction of NLR, LMR, and PLR and finally contribute to the efficacy of the re-challenge treatment by PD-1 inhibitor.
A nontraditional presentation and treatment for emphysematous cystitis
Authors: Benjamin Becker, Asher George, Ryan Owen
Journal: Urol Case Rep (2023)
Keywords: cystitis, emphysematous, management, rupture
MeSH terms: Case Reports

Emphysematous cystitis (EC) is a bladder pathology typically resulting from gas-producing bacterial infections. Risk factors include female gender, age greater than 60, diabetes mellitus, glycosuria, and urinary stasis. If not addressed promptly, it can progress to critical conditions. Management depends on severity, ranging from conservative to surgical interventions. We present a unique case of EC in a patient who lacked the most common risk factors, and who experienced a spontaneous intraperitoneal bladder rupture. Additionally, we treated this presentation against what historically is suggested. Lastly, this is the first published incidence of a patient with both Parkinson's Disease and EC.
PRP and articular cartilage: a clinical update
Authors: Antonio Marmotti, Roberto Rossi, Filippo Castoldi, Eliana Roveda, Gianni Michielon, Giuseppe M Peretti
Journal: Biomed Res Int (2015)
MeSH terms: Anti-Inflammatory Agents / therapeutic use, Cartilage, Articular / metabolism, Osteoarthritis / drug therapy, Osteoarthritis / metabolism, Platelet-Rich Plasma, Review, Cartilage, Articular / pathology, Humans, Osteoarthritis / pathology, Anti-Inflammatory Agents

The convincing background of the recent studies, investigating the different potentials of platelet-rich plasma, offers the clinician an appealing alternative for the treatment of cartilage lesions and osteoarthritis. Recent evidences in literature have shown that PRP may be helpful both as an adjuvant for surgical treatment of cartilage defects and as a therapeutic tool by intra-articular injection in patients affected by osteoarthritis. In this review, the authors introduce the trophic and anti-inflammatory properties of PRP and the different products of the available platelet concentrates. Then, in a complex scenario made of a great number of clinical variables, they resume the current literature on the PRP applications in cartilage surgery as well as the use of intra-articular PRP injections for the conservative treatment of cartilage degenerative lesions and osteoarthritis in humans, available as both case series and comparative studies. The result of this review confirms the fascinating biological role of PRP, although many aspects yet remain to be clarified and the use of PRP in a clinical setting has to be considered still exploratory.
Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy
Authors: Aaron G Day-Williams, Chao Sun, Ilijas Jelcic, Helen McLaughlin, Tim Harris, Roland Martin, John P Carulli
Journal: J Clin Immunol (2015)
Keywords: dock8 deficiency, hyper ige syndrome, jc virus, progressive multifocal leukoencephalopathy (pml), primary immune deficiency
MeSH terms: Guanine Nucleotide Exchange Factors / deficiency, Guanine Nucleotide Exchange Factors / genetics, Job Syndrome / genetics, Job Syndrome / immunology, Leukoencephalopathy, Progressive Multifocal / genetics, Leukoencephalopathy, Progressive Multifocal / immunology, Case Reports, Adult, Chromosome Deletion, Chromosomes, Human, Pair 9 / genetics, Chromosomes, Human, Pair 9 / immunology, DNA Mutational Analysis, Gene Deletion, Homozygote, Humans, Male, Telomere / genetics, DOCK8 protein, human, Guanine Nucleotide Exchange Factors, Chromosome 9p Deletion Syndrome

Purpose:
A 30 year-old man with a history of recurrent skin infections as well as elevated serum IgE and eosinophils developed neurological symptoms and had T2-hyperintense lesions observed in cerebral MRI. The immune symptoms were attributed to Hyper IgE syndrome (HIES) and the neurological symptoms with presence of JC virus in cerebrospinal fluid were diagnosed as Progressive Multifocal Leukoencephalopathy (PML). The patient was negative for STAT3 mutations. To determine if other mutations explain HIES and/or PML in this subject, his DNA was analyzed by whole genome sequencing.
Methods:
Whole genome sequencing was completed to 30X coverage, and whole genome SNP typing was used to complement these data. The methods revealed single nucleotide variants, structural variants, and copy number variants across the genome. Genome-wide data were analyzed for homozygous or compound heterozygous null mutations for all protein coding genes. Mutations were confirmed by PCR and/or Sanger sequencing.
Results:
Whole genome analysis revealed deletions near the telomere of both copies of chromosome 9p. Several genes, including DOCK8, were impacted by the deletions but it was unclear whether each chromosome had identical or distinct deletions. PCR across the impacted region combined with Sanger sequencing of selected fragments confirmed a homozygous deletion from position 10,211 to 586,751.
Conclusion:
While several genes are impacted by the deletion, DOCK8 deficiency is the most probable cause of HIES in this patient. DOCK8 deficiency may have also predisposed the patient to develop PML.
Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum
Authors: Ji-Qing Duan, Hui Liu, Jia-Qiao Wu
Journal: Front Integr Neurosci (2023)
Keywords: spg11, case report, gene mutation, hereditary spastic paraplegia, thin corpus
MeSH terms: Case Reports

A 24-year-old man presented with insidious onset progressive gait disturbance and was finally diagnosed with autosomal recessive hereditary spastic paraplegia. Two novel mutations, including a frameshift mutation (c.5687_5691del) and a non-sense mutation (c.751C>T), were identified in the SPG11 gene of the patient through whole genome sequencing. The frameshift mutation of c.5687_5691del leads to a change in amino acid synthesis beginning with amino acid No. 1896 arginine and terminating at the 8th amino acid after the change (p. Arg1896MetfsTer8). The non-sense mutation (c.751C>T) causes the conversion of codon 251st encoding the amino acid Gln into a stop codon (p. Gln251Ter), resulting in premature termination of peptide synthesis. Although confirmation of compound-heterozygosity could not be performed, our findings enriched the phenotypic spectrum of SPG11 mutations related to hereditary spastic paraplegia.