OpenMed/multicare-articles huggingface dataset:
A rare case of malignant giant phyllodes tumour with retrosternal extension and pericardial invasion
Authors: Rishi Philip Mathew, Ram Shenoy Basti, Hadihally B Suresh
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Phyllodes tumour was first described in 1838 by Johannes Muller. These tumours are uncommon and comprise < 0.5% of all breast neoplasms. Among the three histological subtypes-benign, borderline and malignant-the malignant variety is the most uncommon. Giant phyllodes tumours measure > 10 cm in their largest dimension. Overall prognosis for these lesions is poor, with high recurrence rates. Surgery with post-operative adjuvant chemoradiotherapy is the main treatment for malignant giant phyllodes tumours. We present a rare case of malignant giant phyllodes tumour of the left breast in a 23-year-old female patient with retrosternal extension and invasion of the pericardium.
An exceptional collision tumor: gastric calcified stromal tumor and pancreatic adenocarcinoma
Authors: Hicham Baba, Mohamed Elfahssi, Mohamed Said Belhamidi, Abderrahman Elhjouji, Ahmed Bounaim, Abdelmounaim Ait Ali, Khalid Sair, Aziz Zentar
Journal: Pan Afr Med J (2015)
Keywords: collision tumor, adenocarcinoma, stromal tumor
MeSH terms: Adenocarcinoma / pathology, Gastrointestinal Stromal Tumors / pathology, Pancreatic Neoplasms / pathology, Stomach Neoplasms / pathology, Case Reports, Adenocarcinoma / diagnosis, Aged, Calcinosis / pathology, Gastrointestinal Stromal Tumors / diagnosis, Humans, Male, Pancreatic Neoplasms / diagnosis, Stomach Neoplasms / diagnosis

The authors report an exceptional case of collision tumor comprised of a gastric calcified stromal tumor and a pancreatic adenocarcinoma. The pancreatic tumor was detected fortuitously on the histological exam of resection specimen.
Gait Apraxia with Exaggerated Upper Limb Movements as Presentation of AARS2 Related Leukoencephalopathy
Authors: Arka Prava Chakraborty, Adreesh Mukherjee, Aishee Bhattacharyya, Dwaipayan Bhattacharyya, Biman Kanti Ray, Atanu Biswas
Journal: Tremor Other Hyperkinet Mov (N Y) (2022)
Keywords: aars2 mutation, mri, familial, gait apraxia, leukodystrophy
MeSH terms: Alanine-tRNA Ligase / genetics, Leukoencephalopathies / complications, Leukoencephalopathies / diagnostic imaging, Leukoencephalopathies / genetics, Mitochondrial Encephalomyopathies, Case Reports, Gait Apraxia, Humans, Male, Middle Aged, Upper Extremity, Alanine-tRNA Ligase

A 55-year-old male presented with apraxia of gait with exaggerated upper limb movement with relative preservation of cognition and mild spasticity of limbs. His investigations reveal posterior-predominant leukodystrophy in brain magnetic resonance imaging (MRI) and compound heterozygous mutations in mitochondrial alanyl-transfer RNA synthetase 2 (AARS2) by next generation sequencing. His asymptomatic brother also has MRI changes with subtle mild pyramidal signs. AARS2 mutation is a rare cause of mitochondrial encephalopathy which may give rise to leukodystrophy with premature ovarian failure, infantile cardiomyopathy, lung hypoplasia and myopathy. Gait apraxia as primary presenting feature of this rare variant of mitochondrial encephalomyopathy is hitherto un-reported.
Cancer based pharmacogenomics network supported with scientific evidences: from the view of drug repurposing
Authors: Liwei Wang, Hongfang Liu, Christopher G Chute, Qian Zhu
Journal: BioData Min (2015)
Keywords: cancer, drug repurposing, network, pharmacogenomics

Background:
Pharmacogenomics (PGx) as an emerging field, is poised to change the way we practice medicine and deliver health care by customizing drug therapies on the basis of each patient's genetic makeup. A large volume of PGx data including information among drugs, genes, and single nucleotide polymorphisms (SNPs) has been accumulated. Normalized and integrated PGx information could facilitate revelation of hidden relationships among drug treatments, genomic variations, and phenotype traits to better support drug discovery and next generation of treatment.
Methods:
In this study, we generated a normalized and scientific evidence supported cancer based PGx network (CPN) by integrating cancer related PGx information from multiple well-known PGx resources including the Pharmacogenomics Knowledge Base (PharmGKB), the FDA PGx Biomarkers in Drug Labeling, and the Catalog of Published Genome-Wide Association Studies (GWAS). We successfully demonstrated the capability of the CPN for drug repurposing by conducting two case studies.
Conclusions:
The CPN established in this study offers comprehensive cancer based PGx information to support cancer orientated research, especially for drug repurposing.
Multiple ossified spinal meningiomas in the thoracic spine: A case report and literature review
Authors: Chunke Dong, Yi Liu, Yuting Zhu, Hongyu Wei, Yuzhuo Ma
Journal: Front Surg (2022)
Keywords: calcification, multiple meningiomas, ossification, spinal meningioma, surgery
MeSH terms: Case Reports

Background:
Ossified spinal meningioma (OSM) is a rare form of a spinal tumor. The surgical strategies and pathologic findings related to OSM have been investigated in recent years. However, multiple OSMs are rarely reported. Here, we intend to present a rare case of multiple OSMs and review the relevant published literature.
Case presentation:
A 76-year-old woman experienced a progressive sensorimotor disturbance in her bilateral lower limbs for the past 2 years. She complained of inability to walk, urinary incontinence, and chronic constipation when referred to our hospital. A neurological examination revealed a diminished sensation below the bilateral T7, and her neurological status was Nurick Grade 6. Magnetic resonance imaging (MRI) revealed multiple intradural-extramedullary neoplasms at the T7-T11 level. Computed tomography (CT) scans showed five high-density masses of varying sizes in the spinal canal at the T7-T12 level. The patient underwent tumor resection through T7-T11 laminectomy. A histopathological examination revealed multiple OSMs.
Conclusion:
We reported a rare case of multiple OSMs in an elderly patient. After one-stage complete resection, the patient recovered with satisfactory curative effect. Although elderly patients will face various postoperative complications due to their poor physical condition, we still recommend one-stage complete resection of multiple OSMs to reduce recurrence.
Case Report: Activating PIK3CD Mutation in Patients Presenting With Granulomatosis With Polyangiitis
Authors: Meiping Lu, Weizhong Gu, Yuanjian Sheng, Jingjing Wang, Xuefeng Xu
Journal: Front Immunol (2021)
Keywords: pik3cd gene, activated phosphoinositide 3-kinase δ syndrome, children, granulomatosis with polyangiitis, immunodeficiency
MeSH terms: Class I Phosphatidylinositol 3-Kinases / genetics, Granulomatosis with Polyangiitis / diagnosis, Primary Immunodeficiency Diseases / diagnosis, Primary Immunodeficiency Diseases / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Child, Preschool, Diagnostic Errors, Female, Gain of Function Mutation, Humans, Male, Class I Phosphatidylinositol 3-Kinases, PIK3CD protein, human, Activated PI3K-delta Syndrome

Activated phosphoinositide 3-kinase δ syndrome (APDS) is an autosomal dominant primary immunodeficiency caused by gain-of-function (GOF) mutations in PIK3CD or PIK3R1 genes. The phenotypes of APDS are highly variable, ranging from asymptomatic adults to profound immunodeficiency causing early death in childhood. Herein, we reported two pediatric patients with APDS presented with recurrent lung infections, sinusitis, hematuria, and positive anti-neutrophil cytoplasmic antibody (ANCA), previously diagnosed as granulomatosis with polyangiitis (GPA). Bronchoscopy showed mucosal nodule lymphoid hyperplasia in the entire airway. Many inflammatory cells infiltrated around the airway and in the lung parenchyma, and numbers of CD3+ T cells and CD20+ B cells were significantly increased, especially CD3+ T cells. Whole exome sequencing showed that they had the E1021K (c.3061 G >A) mutation in the PIK3CD gene. These are the first reported cases of APDS presenting as childhood-onset GPA. Pediatricians should suspect of APDS in the differential diagnosis of children who present with GPA-like symptoms. Additionally, timely and repeated bronchoscopies could contribute to providing an important diagnostic clue for APDS.
A rare case of endolymphatic sac tumour: clinicopathologic study and surgical management
Authors: Emanuele Ferri, Maurizio Amadori, Enrico Armato, Ida Pavon
Journal: Case Rep Otolaryngol (2014)

Objective. Endolymphatic sac tumor (ELST) is a rare neoplasm arising from the intrapetrous portion of the endolymphatic sac, either isolated or in association with the von Hippel-Lindau disease. We report a sporadic case of ELST with an overview of the literature and a discussion of clinic-radiological, histopathologic, and surgical findings. Case Report. A young woman presented with a progressive hearing loss in the left ear. Otoscopy showed a reddish, bleeding hypotympanic mass. CT demonstrated an expansile lytic mastoid lesion extending to the middle ear, with bone erosion. MRI confirmed a lesion of increased signal on T1-weighted sequences. The patient underwent a canal wall-down tympanoplasty with complete removal of the tumor. Histopathology was consistent with a papillary ELST. Immunohistochemistry was positive for cytokeratin and chromogranin A. Conclusion. This paper highlights the rarity of ELST, the need for an accurate neuroradiological and immunohistochemical study at the early stages, and the timeliness of surgical treatment.
Longus colli tendinitis. A review of literature and case series
Authors: Ahmed Shawky, Belal Elnady, Essam El-Morshidy, Wael Gad, Ali Ezzati
Journal: SICOT J (2017)

Purpose:
To increase the awareness of longus colli tendinitis (LCT) among spine specialists and to present a practical overview of diagnostic and treatment options, so that unnecessary interventions are avoided. Five sample cases from a German spine center will also be presented.
Methods:
Literature review and case series. A PubMed search was performed in May 2015, and the articles found were reviewed for clinical presentation, investigations, and treatment. The frequency of publication of LCT cases and the specialty of journals were also noted. Recent cases treated in our institution were also reviewed. The clinical findings, investigations, and therapeutic interventions were summarized.
Results:
The PubMed search from May 2015 found 104 articles, published over 51 years, on the topic of LCT. Only four were published in spine journals. A review of this literature yielded a total of 242 cases. The classic clinical triad included neck pain, limitation of movements, and swallowing complaints. C-reactive Protein (CRP) values were available in 21 cases (mean 23.66 mg/dL). A contrast-enhanced computed tomography (CT) scan was the best diagnostic modality. LCT is usually a self-limiting condition, but non-steroidal anti-inflammatory drugs (NSAIDs) may help alleviate discomfort. Five cases of LCT were diagnosed and treated in our center over the past three years.
Conclusions:
LCT, which is uncommon and has non-specific symptoms, is often referred to spine centers. Spine specialists should be aware of its clinical presentation and radiographic findings in order to avoid unnecessary interventions. The condition is self-limiting and can be treated conservatively.
A Case of Fibrous Pseudotumor in the Scrotum: Challenge for Diagnosis and Testicular Preservation
Authors: Hirotake Kodama, Shingo Hatakeyama, Teppei Matsumoto, Toshikazu Tanaka, Hirotaka Horiguchi, Yuka Kubota, Hayato Yamamoto, Atsushi Imai, Takahiro Yoneyama, Yasuhiro Hashimoto, Takuya Koie, Chikara Ohyama
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

A paratesticular fibrous pseudotumor is a relatively rare benign disease. Preoperatively diagnosing a fibrous pseudotumor is challenging because distinguishing these masses from malignant tumors on the basis of clinical and radiological findings can be difficult. We present a case of a 28-year-old man who presented with a painless palpable mass in the right scrotum; the fibrous pseudotumor of the tunica vaginalis was treated with organ-sparing surgery. Computed tomography and magnetic resonance imaging revealed paratesticular tumors. Testicular tumor marker levels were within normal limits. We scheduled the patient to undergo tumor biopsy combined with intraoperative rapid diagnosis. Frozen section assessment suggested a fibrous pseudotumor without malignancy. We successfully performed organ-sparing surgery. Testicular-sparing surgery combined with frozen section assessment is primarily used for treating paratesticular fibrous pseudotumors.
A case of chronic myeloid leukemia in a diagnostic radiographer
Authors: Chulyong Park, Sungyeul Choi, Dohyung Kim, Jaechan Park, Saerom Lee
Journal: Ann Occup Environ Med (2014)
Keywords: chronic myeloid leukemia, diagnostic radiation, occupational diseases, occupational radiation, probability of causation, workers’ compensation
MeSH terms: Case Reports

Background:
Occupational radiation exposure causes certain types of cancer, specifically hematopoietic diseases like leukemia. In Korea, radiation exposure is monitored and recorded by law, and guidelines for compensation of radiation-related diseases were implemented in 2001. However, thus far, no occupation-related disease was approved for compensation under these guidelines. Here, we report the first case of radiation-related disease approved by the compensation committee of the Korea Workers' Compensation and Welfare Service, based on the probability of causation.
Case presentation:
A 45-year-old man complained of chronic fatigue and myalgia for several days. He was diagnosed with chronic myeloid leukemia. The patient was a diagnostic radiographer at a diagnostic radiation department and was exposed to ionizing radiation for 21 years before chronic myeloid leukemia was diagnosed. His job involved taking simple radiographs, computed tomography scans, and measuring bone marrow density.
Conclusion:
To our knowledge, this is the first approved case report using quantitative assessment of radiation. More approved cases are expected based on objective radiation exposure data and the probability of causation. We need to find a resolution to the ongoing demands for appropriate compensation and improvements to the environment at radiation workplaces.
Medically Refractory Multiple Sclerosis Is Successfully Treated with Plasmapheresis in a Super Morbidly Obese Pregnant Patient
Authors: Lindsey Dalka, Antoine Harb, Kael Mikesell, Gillian Gordon Perue
Journal: Case Rep Neurol Med (2020)
MeSH terms: Case Reports

Multiple sclerosis (MS) is a relapse remitting immune-mediated demyelinating neurological disorder that primarily affects women of childbearing age. In most patients, the hormonal changes during pregnancy are protective against MS relapses. When relapses do occur, treatment options are limited to use of intravenous steroids and plasmapheresis rescue therapy. We present a case of steroid refractory MS-transverse myelitis with quadriplegia in a 25-year-old pregnant super morbidly obese woman. Our clinical case is unique because the severity of her relapse early in pregnancy, which was intractable and resistant to steroids. This may have been a rebound demyelination due to the discontinuation of fingolimod; a newly recognized entity by the FDA. Our case report therefore seeks to raise awareness about a potential complication of discontinuing MS disease modifying therapies, highlighting that these rebound relapses can be steroid resistant and occur despite the usual protective hormonal influence of early pregnancy and that plasma exchange is a valid treatment option. Finally, we discuss the challenges of determining exchange volumes for plasmapheresis in the super morbid obese population to secure good maternal and fetal outcomes.
Clinic-based ultra-wide field retinal imaging in a pediatric population
Authors: Nikisha Kothari, Stacy Pineles, David Sarraf, Federico Velez, Gad Heilweil, Gary Holland, Colin A McCannel, Tania Onclinx, Tara A McCannel, SriniVas R Sadda, Steven D Schwartz, Irena Tsui
Journal: Int J Retina Vitreous (2019)
Keywords: fluorescein angiography, pediatric imaging, wide-field imaging
MeSH terms: Case Reports

Background:
Pediatric retinal disorders, although uncommon, can be challenging to assess in the clinic setting and often requires an exam under anesthesia. The purpose of our study was to evaluate the use of ultra-wide field retinal imaging in children without sedation in an outpatient clinic.
Methods:
We performed a retrospective case series of patients 18 years or younger who received ultra-wide field imaging over a one year period. The age, gender, and clinical course were documented. Color fundus and red-free images were reviewed to assess field of view. Ultra-wide field autofluorescence (UWF-FAF) was evaluated for abnormal autofluorescence patterns and ultra-wide field fluorescein angiography (UWF-FA) was assessed for angiographic phase and field of view.
Results:
A total of 107 eyes of 55 patients with a mean age of 11.1 years (SD 3.7 years, range 3-18 years) were evaluated. Twenty-seven (49%) patients were male. The most common diagnosis was retinopathy of prematurity (7 of 55 patients, 12.7%) followed by trauma (7.4%), Coats disease (7.4%), and rhegmatogenous retinal detachment (7.4%). The number of quadrants visualized anterior to the equator correlated with patient age (r = 0.4, p < 0.01). On UWF-FA, 6 of 14 patients (43%) had images of the arterial phase captured and 14 of 14 patients (100%) had images of the venous phase or later captured.
Conclusions:
We demonstrated that UWF imaging is obtainable in children as young as 3 years old without sedation. UWF fundus photography, UWF-FAF and UWF-FA were useful clinical adjuvants to examination and provide additional information for documenting and monitoring pediatric retinal diseases.
Comparison of upper gastrointestinal fluoroscopy versus computed tomography for evaluation of post-operative leak in a bariatric surgery patient
Authors: Tim Xu, Nicholas Rosculet, Kimberley Steele, Martin Auster
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Bariatric surgery patients commonly undergo post-operative fluoroscopic evaluation for complications, including leaks, in order to progress with oral intake and recovery. As one of the most severe and potentially life-threatening complications, leaks occur in as many as 5% of bariatric surgery patients. Several characteristics of these patients complicate the detection of leaks, including large body habitus and limited mobility. The early detection of leaks can lead to significant reductions in morbidity and mortality in bariatric surgery patients. In a retrospective case series of 619 patients, of whom 20 had experienced a leak, CT scan had a sensitivity of 95% and specificity of 100%, while upper gastrointestinal (UGI) evaluation had an inferior sensitivity of 79% and specificity of 95%. In addition to greater sensitivity and specificity, CT scan can identify other complications, such as abscesses and bowel obstructions. Also, UGI evaluation is notably more dependent on patient and technologist compliance, resulting in suboptimal examinations. UGI, on the other hand, may help further define the size and more precise location of the leak, but typically cannot be performed until the following day if the patient becomes symptomatic at night. We propose that CT evaluation, used in combination with UGI, may increase the overall sensitivity of detecting a leak, thereby improving patient outcomes and decreasing hospital utilization.
Successful Treatment of Myeloid Sarcoma in an Elderly Patient with Myelodysplastic Syndrome with Reduced-Dose Azacitidine
Authors: Kazuya Sato, Nodoka Tsukada, Junki Inamura, Shigetsuna Komatsu, Keisuke Sato, Masayo Yamamoto, Motohiro Shindo, Kentaro Moriichi, Yusuke Mizukami, Mikihiro Fujiya, Yoshihiro Torimoto, Toshikatsu Okumura
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Myeloid sarcoma (MS), which involves extramedullary lesions, is classified as a unique subtype of acute myeloid leukemia (AML). At present, no standard treatments for MS have been established. The patient was an 89-year-old man with myelodysplastic syndrome-excess blast-2 (MDS-EB-2) with a 2-year history of intermittent treatment with azacitidine (AZA) during a 4-year history of MDS. He developed painful cutaneous tumors 8 months after the second discontinuation of AZA. They were refractory for antibiotics and topical tacrolimus hydrate. A tumor biopsy was performed, and the histological findings of the tumor lesion showed a proliferation of tumor cells that were positive for myeloperoxidase and CD68 and negative for CD4 and CD123. The patient was diagnosed with MDS-associated MS. MDS-EB-2 quickly progressed to AML with the appearance of peripheral blood blasts and 25% bone marrow blasts. Monotherapy with reduced-dose AZA (37.5 mg/m2 for 7 days, every 4-6 weeks) was restarted, and the MS quickly disappeared. The patient's MS was successfully treated with 16 cycles of AZA treatment over a 22-month period. There have been 10 reported cases in which MS was successfully treated with AZA. Among the 10 cases, the patient in the present case was the oldest. Treatment with reduced-dose AZA should be considered as a therapeutic option for MS in elderly patients with MDS, especially patients who are ineligible for intensive chemotherapy.
Genomic analysis of focal nodular hyperplasia with associated hepatocellular carcinoma unveils its malignant potential: a case report
Authors: Caner Ercan, Mairene Coto-Llerena, John Gallon, Lana Fourie, Mattia Marinucci, Gabriel F Hess, Jürg Vosbeck, Stephanie Taha-Mehlitz, Tuyana Boldanova, Marie-Anne Meier, Alexandar Tzankov, Matthias S Matter, Martin H K Hoffmann, Luca Di Tommaso, Markus von Flüe, Charlotte K Y Ng, Markus H Heim, Savas D Soysal, Luigi M Terracciano, Otto Kollmar, Salvatore Piscuoglio
Journal: Commun Med (Lond) (2022)
Keywords: cancer genomics, hepatocellular carcinoma

Background:
Focal nodular hyperplasia (FNH) is typically considered a benign tumor of the liver without malignant potential. The co-occurrence of FNH and hepatocellular carcinoma (HCC) has been reported in rare cases. In this study we sought to investigate the clonal relationship between these lesions in a patient with FNH-HCC co-occurrence.
Methods:
A 74-year-old female patient underwent liver tumor resection. The resected nodule was subjected to histologic analyses using hematoxylin and eosin stain and immunohistochemistry. DNA extracted from microdissected FNH and HCC regions was subjected to whole exome sequencing. Clonality analysis were performed using PyClone.
Results:
Histologic analysis reveals that the nodule consists of an FNH and two adjoining HCC components with distinct histopathological features. Immunophenotypic characterization and genomic analyses suggest that the FNH is clonally related to the HCC components, and is composed of multiple clones at diagnosis, that are likely to have progressed to HCC through clonal selection and/or the acquisition of additional genetic events.
Conclusion:
To the best of our knowledge, our work is the first study showing a clonal relationship between FNH and HCC. We show that FNH may possess the capability to undergo malignant transformation and to progress to HCC in very rare cases.