OpenMed/multicare-articles huggingface dataset:
Case report: A unique presentation of a high-grade neuroepithelial tumor with EWSR1::PATZ1 fusion with diagnostic, molecular, and therapeutic insights
Authors: Andre Ene, Jing Di, Janna H Neltner, Thomas Pittman, Susanne M Arnold, Jill M Kolesar, John L Villano, Sara E Bachert, Derek B Allison
Journal: Front Oncol (2023)
Keywords: ewsr1, patz1, brain tumor, gene fusion, neuroepithelial, neurooncology, pediatric
MeSH terms: Case Reports

Background:
EWSR1::PATZ1 fusion tumors are exceedingly rare in the central nervous system with only 14 prior cases documented. PATZ1 fusion neuroepithelial tumors are beginning to be recognized as a distinct molecular class of neoplasms that most often occur in children and young adults. These tumors are polyphenotypic, show diverse morphologic features, may be low- or high-grade, and tend to have an intermediate prognosis.
Case presentation:
Herein, we present an unusual case of a high-grade neuroepithelial tumor in a young man with an EWSR1::PATZ1 fusion. This case is unique because the tumor appears to have undergone high-grade transformation from a persistent low-grade glioma, which has yet to be reported. Furthermore, this case is the first to document concurrent RB1 loss, SMAD4 loss, and TP53 inactivation in this tumor type, which correlates with high-grade transformation. Fortunately, this patient is alive 2.5 years after treatment and 18.5 years after initial presentation, which provides a unique window into how these tumors clinically behave over a long follow-up period. Finally, we discuss the altered molecular pathways that are a result of the EWSR1::PATZ1 fusion and discuss potential therapeutic targets.
Conclusion:
Awareness of the emerging entity of PATZ1 fusion neuroepithelial tumors is important not only for accurate diagnostic and prognostic purposes but also for predicting response to therapy.
Anorectal Cancer with Bone Marrow and Leptomeningeal Metastases
Authors: Ahmed Zeeneldin, Nasser Al-Dhaibani, Yasser M Saleh, Amal Mostafa Ismail, Zuhair Alzibair, Mohamed Shafi Moona, Wael Mohamed
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

This is an interesting case of anorectal signet ring carcinoma with first presentation of an early stage disease, showing the aggressive disease and the undetectable behavior of this type of histology which can mislead diagnosis. Brain/CNS metastasis from colorectal cancer (CRC) is rare occurring in 3% of cases, and leptomeningeal carcinomatosis (LMC) is extremely rare in CRC (<0.02%). Symptoms and signs of LMC are pleomorphic and may be localized to three compartments: cerebral hemispheres, cranial nerves, and spinal cords and roots. Treatment of metastatic rectal cancer has been improving over the last few years with a lot of changes toward longer survival and improvement in quality of life and to change the disease into a chronic condition. However, in our case, the overall survival from the onset of LMC was 3 weeks only. Revising the evidence in the treatment of signet ring histology of rectal cancer, there is no specific treatment recommendation that is for this histology and for such very aggressive behavior which could be considered as a separate entity to the classic adenocarcinoma histology.
Laparoscopic management of appendicular mucinous cystadenoma, case report
Authors: Mohammed S Foula, Abdullah M Alardhi, Sharifah A Othman, M Khalid Mirza Gari
Journal: Int J Surg Case Rep (2019)
Keywords: appendicular mucocele, laparoscopy, mucinous cystadenoma

Introduction:
Appendectomy is the most common emergency surgical procedure performed worldwide. Mucinous cystadenoma is a rare benign tumor of the appendix. There is no agreement on the best surgical approach for its management. Recently, laparoscopic approach is being increasingly tried. Careful excision of the tumor is mandatory to avoid content spillage into peritoneum resulting in pseudomyxoma peritonei.
Case presentation:
A middle-age male patient presented to the emergency department complaining of chronic abdominal pain, bleeding per rectum and recurrent attacks of vomiting. Preoperative imaging confirmed presence of cystic lesion in the right lower quadrant. He underwent a diagnostic laparoscopy with resection of appendicular mucocele. The histopathological examination confirmed the diagnosis of appendicular mucinous cystadenoma. He was followed up in the clinic for two years.
Conclusion:
Appendicular mucinous cystadenoma should be considered in differential diagnosis of cystic mass detected in the right lower quadrant of the abdomen on US or CT. Laparoscopic excision of the tumor is safe and feasible with extra care taken to avoid pseudomyxoma peritonei.'
Corneal Subbasal Nerve Recovery in an Acute Case of Ultraviolet Keratitis Treated with Autologous Serum Eye Drops
Authors: Farshad Abedi, Pedram Hamrah
Journal: J Ophthalmol (2018)

Purpose:
To report degeneration of subbasal corneal nerves and the subsequent neuroregeneration in a case of acute ultraviolet (UV) keratitis, treated with autologous serum eye drops.
Methods:
Case report.
Results:
A 37-year-old female presented with ocular discomfort and blurred vision in both eyes, after exposure to UV-C light in a laboratory. On exam, she had bilateral conjunctival injection and superficial punctate keratitis (SPK), worse in the left, consistent with acute, bilateral, but asymmetric UV-C keratitis. She was initially started on antibiotic ointment and lubricant eye drops. On her follow-up visit 3 days later, corneas had persistent SPK bilaterally. Laser scanning in vivo confocal microscopy (IVCM) showed beading of subbasal corneal nerves in the right eye and decreased subbasal corneal nerve density and numerous amputated nerves in the left eye. Autologous serum eye drops 20%, eight times a day, and loteprednol 0.5% ophthalmic solution were commenced in both eyes. Twelve weeks later, her symptoms fully resolved; IVCM revealed near-normal subbasal corneal nerve density in both eyes.
Conclusions:
IVCM demonstrated dramatic damage to subbasal corneal nerves after brief UV-C exposure. The patient, treated with autologous serum eye drops in both eyes, achieved resolution of symptoms and recovery of subbasal corneal nerves.
Inonotosis in Patient with Hematologic Malignancy
Authors: Ana Fernández-Cruz, Mi Kwon, Jesús Guinea, Pilar Escribano, María Del Carmen Martínez Jiménez, Ana Pulido, Verónica Parra, David Serrano, Jorge Gayoso, José Luis Díez Martín, Emilio Bouza
Journal: Emerg Infect Dis (2018)
Keywords: inonotus spp, phellinus spp, spain, febrile neutropenia, fungi, hematological, invasive fungal disease
MeSH terms: Basidiomycota / classification, Hematologic Neoplasms / complications, Mycoses / microbiology, Case Reports, Research Support, Non-U.S. Gov't, Letter, Adult, Antifungal Agents / therapeutic use, Basidiomycota / isolation & purification, Humans, Immunocompromised Host, Male, Mycoses / complications, Mycoses / drug therapy, Neutropenia, Antifungal Agents

We report a lung-invasive fungal disease with possible cutaneous needle tract seeding in a patient with a febrile neutropenia caused by the Basidiomycetes mold Inonotus spp. Although rare, Inonotus spp. should be added to the list of microorganisms causing invasive fungal disease in neutropenic patients with hematologic malignancies.
Case report: Plasma cell leukemia secondary to multiple myeloma successfully treated with anti-BCMA CAR-T cell therapy
Authors: Jingjing Deng, Yuehui Lin, Defeng Zhao, Chunrong Tong, Alex H Chang, Wenming Chen, Wen Gao
Journal: Front Oncol (2022)
Keywords: chimeric antigen receptor t cell therapy, plasma cell leukemia, relapsed/refractory multiple myeloma, secondary plasma cell leukemia, treatment
MeSH terms: Case Reports

Chimeric antigen receptor (CAR)-T cell therapy provides an effective salvage treatment for relapsed/refractory multiple myeloma (RRMM) patients. End-stage RRMM with plasma cell leukemia (PCL) transformation is highly aggressive and resistant to conventional therapy. There is an urgent need for new therapeutics and CAR-T therapy may play an important role. We report a case of PCL secondary to RRMM successfully treated with CAR-T cell therapy targeting B-cell maturation antigen (BCMA). A woman was diagnosed as having MM 4 years ago and progressed to secondary PCL (sPCL) of five prior lines of treatment including proteasome inhibitors, an immunomodulatory agent, cytotoxic drugs, and an anti-CD38 monoclonal antibody. After receiving a BCMA CAR-T therapy, she achieved a stringent complete response that lasted 9 months. Then, the patient irregularly took venetoclax 10 mg per day due to a slightly higher λ FLC concentration, which did not meet the criteria for progression. She maintained a complete response for the following 7 months. In conclusion, BCMA CAR-T therapy may be a promising therapeutic approach in PCL patients. More studies are needed to evaluate the benefit of anti-BCMA CAR-T therapy in PCL patients. Clinical Trial Registration: www.chictr.org.cn, ChiCTR1900024388, Registered 9 July 2019.
A seizure attributed to ofloxacine in a woman undergoing detoxification for alcohol dependence
Authors: Pierre Lahmek, Laurent Michel, Nadine Meunier, Henri-Jean Aubin
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Objective. To report one case of seizure following administration of ofloxacin. Case Summary. A 38-year-old woman with alcohol dependence but no prior history of seizure disorder admitted in our inpatient alcohol detoxification program was prescribed ofloxacin four days after admission for a lower urinary tract infection. She was currently prescribed diazepam 30 mg per day. This treatment was continued without modification following admission. Forty eight hours after starting ofloxacin and after receiving five doses of oral ofloxacin, the patient experienced a seizure. Ofloxacin treatment was stopped and no further seizures occurred. Neurological examination of the patient, laboratory tests, computerized tomography with contrast enhancement and electroencephalography did not detect any abnormalities. Up to the last consultation, six months after admission, the patient has reported no recurrence of the seizure. Discussion. Quinolone antibiotics vary in their ability to induce seizures, with ofloxacin having one of the least potentials. In the present case, the seizure could be attributed in all probability to taking ofloxacin; since she had no previous history of seizures, she did not present an alcohol withdrawal syndrome, benzodiazepine treatment was not modified, the seizure occurred 48 h after taking ofloxacin, but seven days after stopping drinking, no alternative aetiologies for the seizure could be identified and no seizure recurrence was reported over the following seven months. Of reported cases of seizures in patients treated with fluoroquinolones, none concerned patients with alcohol dependence or patients treated with benzodiazepines. Conclusions. The present case alerts us to the possibility that seizures may occur in alcohol dependent patients treated with benzodiazepines who concomitantly prescribed a fluoroquinolone. These widely-used antibiotics should thus be prescribed with caution to patients undergoing detoxification for alcohol dependence, particularly if they are also taking benzodiazepines, irrespective of whether they have a previous history of seizures or not.
Opsoclonus-Myoclonus Syndrome Associated With West-Nile Virus Infection: Case Report and Review of the Literature
Authors: Răzvan Alexandru Radu, Elena Oana Terecoasă, Amalia Ene, Ovidiu Alexandru Băjenaru, Cristina Tiu
Journal: Front Neurol (2018)
Keywords: west-nile encephalitis, west-nile virus, opsoclonus-myoclonus syndrome, outcome, treatment
MeSH terms: Case Reports

Opsoclonus-myoclonus syndrome (OMS) is a very rare condition with different autoimmune, infectious and paraneoplastic aetiologies or in most cases idiopathic. We report the case of a 75-year-old woman who was admitted in our department in early fall for altered mental status, opsoclonus, multifocal myoclonus, truncal titubation and generalized tremor, preceded by a 5 day prodrome consisting of malaise, nausea, fever and vomiting. Brain computed tomography and MRI scans showed no significant abnormalities and cerebrospinal fluid changes consisted of mildly increased protein content and number of white cells. Work-up for paraneoplastic and autoimmune causes of OMS was negative but serologic tests identified positive IgM and IgG antibodies against West Nile virus (WNV). The patient was treated with Dexamethasone and Clonazepam with progressive improvement of mental status, myoclonus, opsoclonus and associated neurologic signs. Six months after the acute illness she had complete recovery. To our knowledge this is the 14th case of WNV associated OMS reported in the literature so far. We briefly describe the clinical course of the other reported cases together with the different treatment strategies that have been employed.
Femoral nerve compression secondary to a ganglion cyst arising from a hip joint: a case report and review of the literature
Authors: Aydıner Kalacı, Yunus Dogramaci, Teoman Toni Sevinç, Ahmet Nedim Yanat
Journal: J Med Case Rep (2009)

Introduction:
Femoral nerve compression due to a cystic lesion around the hip joint is rare and only a few cases have been described in the literature. Among these, true ganglion cysts are even more rare.
Case presentation:
We report the case of a 57-year-old woman with femoral nerve compression caused by a true ganglion cyst of the hip joint.
Conclusion:
A high index of suspicion is required to predict a non-palpable cystic lesion around the hip joint as it may mimic different disorders and should be kept in mind in the differential diagnosis of unusual groin pain, radicular pain and peripheral vascular disorders.
Bronchial Dieulafoy's Disease in Children: A Case Report and Review of Literature
Authors: Yi-Ting Yeh, Madhavan Ramaswamy, Jinnie Shin, Denise McIntyre, Neil McIntosh, Jean-Nicolas Racicot, Samantha Chippington, Samuel Stuart, Nagarajan Muthialu
Journal: Front Pediatr (2020)
Keywords: bronchial, haemoptysis, sleeve resection of bronchus, surgery, vascular malformation
MeSH terms: Case Reports

Dieulafoy's disease is a rare vascular lesion characterized by presence of large aberrant arteries within the submucosa of gastrointestinal tract or respiratory tract with a potential to cause life-threatening hemorrhage. Treatment includes bronchoscopy ablation, angiographic embolization or surgery. We report management of 7-year old girl with Dieulafoy's disease in the airway who presented with recurrent hemoptysis. Bronchial angiography revealed multiple feeding vessels to the lesion. Considering the potential risk of recurrence with embolization, sleeve resection of bronchus offered complete resolution. This case demonstrates the usefulness of bronchial angiography as part of multi-faceted approach before surgery in the management of Dieulafoy's disease.
Case Report: Co-existence of sarcoidosis and Takayasu arteritis
Authors: Jiwan Poudel, Ujjwol Risal, Keshav Raj Sigdel, Buddhi Prasad Paudyal, Sudeep Adhikari, Buddha Basnyat
Journal: Wellcome Open Res (2020)
Keywords: sarcoidosis, coexistence, takayasu arteritis
MeSH terms: Case Reports

Takayasu arteritis is a rare systemic large vessel vasculitis affecting the aorta and its branches. Sarcoidosis, too, is an inflammatory disease. Both entities are granulomatous conditions with a questionable association in their etiopathogenesis. Only a few cases of their coexistence have been reported in the literature. To our knowledge, no such cases have been reported from Nepal. We report a Nepalese woman who presented with non-productive cough, progressive shortness of breath and chest tightness of 3 years duration. She had a history of recurrent bilateral granulomatous uveitis over the previous 3 years. Examination revealed clubbing of digits, absent pulses over the left radial, ulnar and brachial arteries, and a weak pulse over the right arm including the bilateral carotid arteries. Pulmonary function test showed restrictive pattern, a high-resolution computed tomography (HRCT) scan of the chest revealed findings suggestive of pulmonary sarcoidosis. A CT angiogram suggested large vessel vasculitis. Bronchoscopy with biopsy revealed granulomatous inflammation, negative for malignancy and tuberculosis. She was hence, diagnosed with co-existing Takayasu arteritis and sarcoidosis, and treated with Prednisolone 60 mg once daily with dramatic improvement over 4 days and was discharged stable on domiciliary oxygen. She is currently on azathioprine 50 mg, prednisolone 10 mg without the need for supplemental oxygen. This case report highlights the importance of a proper physical examination as a guide to the use of modern technology in making a correct diagnosis. Furthermore, in countries where tuberculosis is endemic, it should always come as the most important differential diagnosis of granulomatous inflammation.
Living Donor Re-transplantation for Repeated Acute Liver Failure
Authors: V Ince, C Kayaalp, E Otan, F Ozdemir, A Dirican, H I Toprak, C Aydin, C Ara, S Yilmaz
Journal: Int J Organ Transplant Med (2018)
Keywords: liver failure, living donors, transplantation, acute
MeSH terms: Case Reports

Emergency liver transplantation (LT) for acute liver failure (ALF) is a life-saving treatment. Occurrence of this situation in the same patient twice is very rare. Herein, we describe a patient who underwent two emergency LTs for ALF, both from living donors. When she was 26 years old, she underwent a right lobe living donor LT (LDLT) from her sister for ALF due to use of herbal weight loss medications. The next 3 years were uneventful but another ALF developed during a terminal stage pregnancy (37th week). Despite medical treatment, her liver functions worsened, and the baby was delivered by caesarean section. The second time, her brother was the donor and she recovered after the emergency right lobe re-LDLT. Both patient and baby were well at the 2-month follow-up. As far as we know, there is no reported similar case, and we concluded that LDLT is a paramount treatment option for both primary and secondary ALFs.
Propionibacterium avidum as an Etiological Agent of Prosthetic Hip Joint Infection
Authors: Peter Wildeman, Holger Brüggemann, Christian F P Scholz, Andreas Leimbach, Bo Söderquist
Journal: PLoS One (2016)
MeSH terms: Arthroplasty, Replacement, Hip / adverse effects, Hip Prosthesis, Propionibacterium / isolation & purification, Prosthesis-Related Infections / microbiology, Case Reports, Aged, Aged, 80 and over, Female, Genome, Bacterial, Humans, Male, Multigene Family, Phenotype, Phylogeny, Polymorphism, Single Nucleotide, Polysaccharides / chemistry, Postoperative Complications, Skin / pathology, Polysaccharides

Propionibacterium acnes is well-established as a possible etiologic agent of prosthetic joint infections (PJIs). Other Propionibacterium spp. have occasionally been described as a cause of PJIs, but this has not previously been the case for P. avidum despite its capacity to form biofilm. We describe two patients with prosthetic hip joint infections caused by P. avidum. Both patients were primarily operated with an anteriorly curved skin incision close to the skin crease of the groin, and both were obese. Initial treatment was performed according to the DAIR procedure (debridement, antibiotics, and implant retention). In case 1, the outcome was successful, but in case 2, a loosening of the cup was present 18 months post debridement. The P. avidum isolate from case 1 and two isolates from case 2 (obtained 18 months apart) were selected for whole genome sequencing. The genome of P. avidum obtained from case 1 was approximately 60 kb larger than the genomes of the two isolates of case 2. These latter isolates were clonal with the exception of SNPs in the genome. All three strains possessed the gene cluster encoding exopolysaccharide synthesis. P. avidum has a pathogenic potential and the ability to cause clinically relevant infections, including abscess formation, in the presence of foreign bodies such as prosthetic joint components. Skin incision in close proximity to the groin or deep skin crease, such as the anteriorly curved skin incision approach, might pose a risk of PJIs by P. avidum, especially in obese patients.
Therapeutic Dilemma of Natural Watchman: Congenital Absence of the Left Atrial Appendage
Authors: Phoo Pwint Nandar, Asim Kichloo, Thein Tun Aung, Kevin D Kravitz
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Congenital absence of the left atrial appendage is a rare congenital cardiac anomaly which is usually an incidental finding. We present a rare case of congenital absence of the left atrial appendage in a 77-year-old female patient with atrial fibrillation, and we will discuss the role of anticoagulation in the patient with congenital absence of the left atrial appendage based on the scientific data and theoretic background.
Bilateral breast cancer among three Yoruba women in a Nigerian teaching hospital
Authors: Millicent Olubunmi Obajimi, Adenike Temitayo Adeniji-Sofoluwe, Adewunmi Oluseye Adeoye, Gbolahan Oladele Obajimi, Mustapha A Ajani, Prisca Olabisi Adejumo, Omolola M Akinwunmi
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

Breast cancer is the most common cancer among females in Nigeria. Bilateral breast cancer can occur synchronously or metachronously. We report three different cases of bilateral breast cancer in three female patients managed by the Ibadan Multidisciplinary Breast Tumour Board, domiciled at the University College Hospital (UCH), over a 3-year period. Two of these patients had synchronous bilateral breast cancer and developed cancer in the second breast during the course of management. These case reports may therefore stimulate further research on the clinicopathological features and the progression of bilateral breast cancer among females, especially in our environment. Our patients were premenopausal and the immunochemistry of the tumours showed a triple-negative immunophenotype. The other features of presentation, investigation, diagnosis and follow-up care are the highlights of this presentation.
Stomal stenosis during gradual closure of a traumatic abdominal wall hernia
Authors: Mitsuhiro Suzuki, Hisao Matsushima, Katsuki Uehara, Tatsuhiko Saiki, Atsuki Hayamizu, Toshirou Kamisasanuki, Daisuke Sugiki
Journal: Int J Surg Case Rep (2019)
Keywords: abdominal wall reconstruction, case report, ileostomy, negative pressure wound therapy, stomal stenosis, traumatic abdominal wall hernia

Introduction:
Traumatic abdominal wall hernias are often accompanied by intra-abdominal injuries, and a stoma may be required. Although rare, stomal stenosis can develop after the repair of a traumatic abdominal wall hernia.
Presentation of case:
A 65-year-old woman was in a head-on collision with a truck and was brought by ambulance to our facility. The findings of a physical examination and computed tomography scan suggested bowel perforation for which exploratory surgery was performed. The lacerated small bowel and sigmoid colon were resected and an ileostomy and colostomy were created. Abdominal wall reconstruction was impossible because of the large defect size. Repair of the abdominal wall was achieved by gradual closure of the fascia after surgery in combination with negative pressure wound therapy. Stenosis of the ileostomy occurred during this process and was surgically repaired.
Discussion:
We reconstructed the abdominal wall using negative pressure wound therapy in combination with sutures while minimizing the risk of abdominal compartment syndrome. This approach did not increase the intra-abdominal pressure, but it deformed the abdominal wall, resulting in unexpected stenosis of the ostomy.
Conclusion:
Gradual postoperative closure of a traumatic abdominal wall hernia with an ostomy in place may result in stomal stenosis. Stomal patency must be carefully evaluated during this process.