OpenMed/multicare-articles huggingface dataset:
Case report and review of literature: Resection of a huge mediastinal low-grade fibromyxoid sarcoma with neck, axillary, and lung involvement
Authors: Natalie Khamashta, Ahmad Dalal, Mo'men Alashwas, Mayar Idkedek, Firas Abu-Akar
Journal: Front Surg (2022)
Keywords: huge sarcoma, low-grade fibromyxoid sarcoma, mediastinum, surgical resection, thoracotomy
MeSH terms: Case Reports

Low-grade fibromyxoid sarcoma is an extremely rare malignant neoplasm, with an incidence of 0.18 per million, and comprises 0.6% of all soft tissue sarcomas. It has a high recurrence rate and late metastatic spread and is chemotherapy and radiotherapy insensitive. This paper reports a case of an unusually large mediastinal low-grade fibromyxoid sarcoma in a 55-year-old patient. The tumor was engulfing the main blood vessels of the mediastinum, involving the lung, and extending beyond the chest cavity to involve the cervical and axillary regions. The patient has a 21-year history of frequent surgical resections for lesions that were repeatedly misdiagnosed as neurofibroma. The tumor was successfully resected by a challenging operation that involved mediastinal mass resection, chest wall mass resection, and wedge resection of the left upper lobe of the lung. The deceivingly benign-looking histology of this tumor makes it a commonly misdiagnosed one, requiring careful assessment by pathologists to reach the right diagnosis. Surgical resection with clear margins remains the treatment of choice for these lesions. Due to the behavior of this tumor, once detected and managed, extensive long-term follow-up is always recommended.
Atypical presentation of Sjogren's syndrome with MALT lymphoma mimicking chronic venous ulcers
Authors: Marta Wasilewska
Journal: J Vasc Bras (2021)
Keywords: sjogren’s syndrome, leg ulcer, lymphoma, skin neoplasms, venous insufficiency
MeSH terms: Case Reports

Chronic ulcerations of the lower extremities are quite a common condition amongst adults, most often caused by chronic venous insufficiency. Irrespective of the main underlying cause, chronic limb ulcerations are usually associated with significant symptoms, impairing daily functioning. Improper or delayed diagnosis and inadequate treatment increase the risk of serious complications, including limb amputations. Malignancies can develop secondary to chronic leg ulcers. About 2.4% of ulcers arising from chronic venous stasis undergo malignant transformation. Squamous cell carcinoma is the most common type of malignancy found in chronic leg ulceration biopsies. Basal cell carcinoma, sarcoma, and melanoma have all been documented infrequently. In the case described here, we found lymphoma of the marginal zone of mucosa-associated lymphoid tissue (MALT), which is an extremely rare cutaneous neoplasm of the lower extremities, but one that may have an association with autoimmune diseases.
Spinocerebellar ataxia type 40: A case report and literature review
Authors: Fengyue Han, Dan Su, Chuanqiang Qu
Journal: Transl Neurosci (2021)
Keywords: genotype–phenotype correlations, polyglutamine diseases, spinocerebellar ataxia
MeSH terms: Case Reports

Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases with ataxia as the main clinical manifestation. The phenotypes, gene mutations, and involved sites of different subtypes show a high degree of heterogeneity. The incidence of SCA varies greatly among different subtypes and the case of SCA40 is extremely rare. The aim of this study is to report a rare case of SCA40 and systematically review the incidence, gene mutation, and phenotype of SCAs, especially SCA40.
Immunohistochemical investigations and introduction of new therapeutic strategies in scleromyxoedema: case report
Authors: Frank Breuckmann, Marcus Freitag, Sebastian Rotterdam, Markus Stuecker, Peter Altmeyer, Alexander Kreuter
Journal: BMC Dermatol (2004)
MeSH terms: Glycosaminoglycans / analysis, Myxedema / pathology, Scleroderma, Localized / pathology, Skin / chemistry, Case Reports, Adult, Chronic Disease, Erythema / etiology, Female, Folic Acid / administration & dosage, Humans, Immunohistochemistry, Methotrexate / administration & dosage, Myxedema / therapy, Phototherapy, Scleroderma, Localized / therapy, Glycosaminoglycans, Folic Acid, Methotrexate

Background:
Scleromyxoedema is a rare chronic skin disease of obscure origin, which may often be associated with severe internal co-morbidity. Even though different casuistic treatment modalities have been described, to date, curing still seems to be impossible.
Case presentation:
We report a 44-year-old Caucasian female presenting with remarkable circumscribed, erythematous to skin-coloured, indurated skin eruptions at the forehead, arms, shoulders, legs and the gluteal region. Routine histology and Alcian blue labelling confirmed a massive deposition of acid mucopolysaccharides. Immunohistochemical investigations revealed proliferating fibroblasts and a discrete lymphocytic infiltration as well as increased dermal expression of MIB-1+ and anti-mastcell-tryptase+ cells. Bone marrow biopsies confirmed a monoclonal gammopathy of undetermined significance without morphological characteristics of plasmocytoma; immunofixation unveiled the presence of IgG-kappa paraproteins.
Conclusions:
Taking all data into account, our patient exhibited a complex form of lichen mxyoedematosus, which could most likely be linked a variant of scleromyxoedema. Experimental treatment with methotrexate resulted in a stabilisation of clinical symptoms but no improvement after five months of therapy. A subsequent therapeutic attempt by the use of medium-dose ultraviolet A1 cold-light photomonotherapy led to a further stabilisation of clinical symptoms, but could not induce a sustained amelioration of skin condition.
Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay
Authors: Yiehen Tung, Haiying Lu, Wenxin Lin, Tingting Huang, Samuel Kim, Guo Hu, Gang Zhang, Guo Zheng
Journal: Front Genet (2021)
Keywords: 1q44 microdeletion syndrome, copy number variation, developmental delay, seizure, whole exon sequencing
MeSH terms: Case Reports

Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion syndrome, we collected the clinical features of the patient and combined them with adjacent copy number variation (CNV) regions previously reported. Methods: We collected the full medical history of the patient and summarized her clinical symptoms. Whole-exome sequencing (WES) and CapCNV analysis were performed with DNA extracted from both the patient's and her parents' peripheral blood samples. Fluorescent quantitative PCR (q-PCR) was performed for the use of verification to the CNV regions. Results: A 28.7 KB microdeletion was detected in the 1q44 region by whole-exome sequencing and low-depth whole-genome sequencing. The deleted region included the genes COX20 and HNRNPU. As verification, karyotype analysis showed no abnormality, and the results of qPCR were consistent with that of whole-exome sequencing and CapCNV analysis. Conclusion: The patient was diagnosed with 1q44 microdeletion syndrome with clinical and genetic analysis. Analyzing both whole-exome sequencing and CapCNV analysis can not only improve the diagnostic rate of clinically suspected syndromes that present with intellectual disability (ID) and multiple malformations but also support further study of the correlation between CNVs and clinical phenotypes. This study lays the foundation for the further study of the pathogenesis of complex diseases.
Rescue Revascularisation in Acute Internal Carotid Artery Occlusion with a Super Extended Time Window of More than 48 hours
Authors: Katharina Berger, Jennifer Sartor-Pfeiffer, Annerose Mengel, Ulrike Ernemann, Ulf Ziemann, Florian Hennersdorf, Katharina Feil
Journal: Case Rep Neurol Med (2022)
MeSH terms: Case Reports

Methods:
We present the case of a 71-year-old Caucasian male "minor stroke" patient with LVO, good collateral flow via the ophthalmic artery, receiving rescue MT following clinical deterioration after >48 hours. NIHSS and modified Rankin scale (mRS) were used for follow-up and modified treatment in cerebral infarction (mTICI) score for angiographic results.
Results:
Excellent angiographic result (mTICI 3) and clinical improvement were achieved (NIHSS preintervention 18, on discharge 2 points). 90-day follow-up showed excellent outcome (mRS 1).
Conclusions:
Late intervention MT should be encouraged when clinical deficit exceeds infarct demarcation. Standardized identification based on clinical and imaging data is required to target critical patients with LVO and low NIHSS, favouring a primary intervention.
Deciduosis of the appendix: a rare cause of acute abdomen during pregnancy (a case report)
Authors: Louis Smits, Mieke Van Bockstal, Julie Frezin
Journal: Pan Afr Med J (2020)
Keywords: deciduosis, acute abdomen, appendicitis, case report, pregnancy
MeSH terms: Abdomen, Acute / etiology, Appendectomy / methods, Appendicitis / diagnosis, Pregnancy Complications / diagnosis, Case Reports, Adult, Appendicitis / surgery, Appendix / pathology, Decidua / pathology, Female, Humans, Pregnancy, Pregnancy Complications / surgery

Appendectomy is the most common non-obstetric surgical intervention in pregnant patients. In rare cases, deciduosis can develop during pregnancy in the appendix and cause inflammation through appendiceal occlusion by ectopic decidua tissue. We report a 28-year-old woman at 32 weeks of pregnancy, who presented at the emergency room with the diagnosis of an acute appendicitis. After successful appendectomy and histopathological examination of the appendectomy specimen, a diagnosis of appendiceal deciduosis with acute appendicitis was established. Here, we discuss the origin of appendiceal deciduosis, as well as its clinical and histopathological presentation.
Cutaneous Adnexal Cylindroma of Breast: Epithelial Immunoreactivities for GATA-3, Mammaglobin, and E-Cadherin Do Not Equate to a Mammary Ductal Neoplasm
Authors: A Halima, A M Pannunzio, E M Erstine, J S Ko, W F Bergfeld, R M Malaya, M B Frankel, B C Calhoun, C D Sturgis
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

Cylindromas are benign epithelial neoplasms derived from cutaneous eccrine adnexal structures. These tumors are most commonly encountered on the head, neck, and scalp of older women. In rare instances, solitary cylindromas may arise at other body sites. In the current case, a cylindroma of the skin of the breast was diagnosed by complete excision. Immunohistochemical studies confirmed the tumor cells to be immunoreactive with cytokeratin AE1/3, cytokeratin 5/6, cytokeratin 7, p63, and SOX10. The neoplastic cells were also noted to be immunoreactive with markers typically expected to be positive in ductal epithelium of the breast including GATA3, mammaglobin, and E-cadherin. The case emphasizes the importance of correlating clinical setting, imaging studies, patient history, and careful microscopic evaluation in arriving at an accurate diagnosis. This case also illustrates the point that not all "breast" tumors that are confirmed to be positive for GATA3, mammaglobin, and E-cadherin are derived from mammary ducts.
Case Report: Area of Focus of Myocardial Infarction With Non-obstructive Coronary Arteries in Eosinophilic Granulomatosis With Polyangiitis
Authors: Xiaoxian Cui, Yang Peng, Jun Liu, Yugang Dong, Zexuan Wu, Yili Chen
Journal: Front Cardiovasc Med (2021)
Keywords: egpa, minoca, stemi, cardiac magnetic resonance, case report
MeSH terms: Case Reports

Background: Eosinophilic granulomatosis with polyangitis manifested as myocardial infarction with non-obstructed coronary arteries (MINOCA) is rarely reported. Case: We report a 43-year-old male patient without any cardiovascular risk factors presenting with acute chest pain. Electrocardiogram was suggestive of acute anterior and inferior myocardial infarction. MINOCA was confirmed based on significant elevated cardiac troponin and normal coronary arteries. Cardiac magnetic resonance (CMR) imaging revealed extended late gadolinium enhancement (LGE). Further diagnosis of eosinophilic granulomatosis with polyangitis (EGPA) was based on clinical manifestations and auxiliary examination. Subsequent immunosuppressive therapy led to regression of symptoms and significant resolution of LGE on CMR. Conclusion: Our case highlights that EGPA can be a rare cause of MINOCA. CMR is useful for differentiation diagnosis and evaluation of cardiac involvement.
Gas gangrene in orthopaedic patients
Authors: Zhimin Ying, Min Zhang, Shigui Yan, Zhong Zhu
Journal: Case Rep Orthop (2013)

Clostridial myonecrosis is most often seen in settings of trauma, surgery, malignancy, and other underlying immunocompromised conditions. Since 1953 cases of gas gangrene have been reported in orthopaedic patients including open fractures, closed fractures, and orthopaedic surgeries. We present a case of 55-year-old obese woman who developed rapidly progressive gas gangrene in her right leg accompanied by tibial plateau fracture without skin lacerations. She was diagnosed with clostridial myonecrosis and above-the-knee amputation was carried out. This patient made full recovery within three weeks of the initial episode. We identified a total of 50 cases of gas gangrene in orthopaedic patients. Several factors, if available, were analyzed for each case: age, cause of injury, fracture location, pathogen, and outcome. Based on our case report and the literature review, emergency clinicians should be aware of this severe and potentially fatal infectious disease and should not delay treatment or prompt orthopedic surgery consultation.
Propionibacterium acnes: A Treatable Cause of Constrictive Pericarditis
Authors: Daniel Cruz, Haitham Ahmed, Yousuf Gandapur, M Roselle Abraham
Journal: Case Rep Med (2015)

In this case report we share a case of infective Pericarditis caused by Propionibacterium acnes (P. acnes) in an immune-competent, nonsurgical patient. This case and review will illustrate the importance of considering P. acnes as a cause of idiopathic pericardial effusion and effusive constrictive disease. The patient was a 61-year-old male with history of osteoarthritis of the knee. He received an intra-articular steroid injection in July 2013. Two months later, he presented with atrial fibrillation and heart failure. He was found to have pericardial and bilateral pleural effusions which grew P. acnes. This organism was initially considered to be contaminant; however, as P. acnes was isolated from both pleural and pericardial fluids, he was started on oral amoxicillin. He was noted to have recurrence of effusions within 2 weeks with evidence of constrictive physiology by echocardiography. Treatment was subsequently changed to intravenous Penicillin G with marked symptomatic improvement, resolution of pericardial/pleural effusions, and no echocardiographic evidence of constrictive pericarditis at 10 weeks follow-up. Pursuit and treatment of P. acnes could lead to prevention of constrictive pericarditis. We believe that further studies are needed to assess prevalence of P. acnes and response to intravenous Penicillin G in patients presenting with effusive constrictive disease.
Case report: Neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline NF1 frameshift mutation
Authors: Wuming Zhang, Xianqin Hu, Zhikang Chen, Chen Lai
Journal: Front Oncol (2022)
Keywords: gist - gastrointestinal stromal tumor, nf-1 = neurofibromatosis type 1, nf1 mutation, pms2 gene, small bowel adenocarcinoma
MeSH terms: Case Reports

A synchronous case of small bowel adenocarcinoma(SAB) is reported, accompanied with gastrointestinal stromal tumor(GIST),and gangliocytomain in an elderly woman with neurofibromatosis type 1 (NF-1). A 67-year-old female was hospitalized with the chief complaint of abdominal pain, the computed tomography scan indicated a large bowel mass. Multiple tumors were found in the small intestine, through which two larger tumors (7 cm and 1.5 cm) were resected. A novel germline NF1 mutation and a PMS2 mutation were identified after genetic testing, followed by the exploration of possible relationship between them in promoting tumorigenesis. Our results suggest multiple gastrointestinal tumors emerging in NF1 patients, and genetic testing can better guide postoperative treatment in a more efficient way.
Cesarean Delivery of a Parturient with Lumboperitoneal Shunt under Spinal Anesthesia
Authors: Hicham Ziani, Med Yassir Lahbabi, Nabil Elachhab, Nawfel Elcaidi, Aziz Slaoui, Hanaa Lazhar, Sophia Lahbabi, Aziz Baidada, Nezha Oudghiri, Rajae Tachinante
Journal: Case Rep Anesthesiol (2023)
MeSH terms: Case Reports

Lumboperitoneal shunt may be indicated as a treatment for idiopathic intracranial hypertension aiming to facilitate the dynamic flow of cerebrospinal fluid into the peritoneum for patients. Parturients with lumboperitoneal shunt are a few, making it difficult to choose the analgesic or anesthetic technique for delivery. We present the case of a successful spinal anesthesia for a cesarean delivery in a parturient who was diagnosed with idiopathic intracranial hypertension that was treated by lumboperitoneal shunt.
Intraoperative Management of Large Resuscitation-Associated Venous Air Embolism (VAE) for Emergent Neurological Surgery
Authors: Ryan S D'Souza, Arnoley S Abcejo, Matthew A Sexton
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

Venous air embolism (VAE) is a well-described phenomenon that may have life-threatening cardiopulmonary and neurological consequences. Accidental administration of air during resuscitation while using a rapid infuser is rare. Furthermore, there is a paucity of published data describing the intraoperative management of VAE during emergent nonseated neurological surgery. We report a 22-year-old previously healthy female who experienced a motor vehicle accident with severe facial and head trauma, and mixed subdural and epidural hematomas with an 8 mm midline shift. Computed tomography revealed significant air entrainment in the right heart and main pulmonary artery, with venous air tracking from the right axillary vein. Given her age, lack of preexisting cardiac comorbidities, hemodynamic stability, and critical cerebral herniation risk, further cardiac evaluation was deferred, and the patient was transferred to the operating room for emergent decompressive craniotomy. Intraoperatively, she experienced acute decrease in mean arterial pressure and end-expiratory carbon-dioxide with loss of pulse oximetry waveform concerning for obstructive VAE physiology. She was responsive to fluid resuscitation and epinephrine administration and did not experience any recurrence of obstructive VAE. This challenging case report describes positive neurologic and hemodynamic outcomes after resuscitation-associated VAE and cardiopulmonary collapse during emergency neurosurgery. Comprehensive evaluation of risk, urgency of procedure, and need for diagnostic monitoring and treatment should be personalized.
Sciatic Herpes Zoster Suspected of Lumbar Disc Herniation: An Infrequent Case Report and Literature Review
Authors: Fei-Long Wei, Tian Li, Yang Song, Lin-Ya Bai, Yifang Yuan, Chengpei Zhou, Jixian Qian, Xiaodong Yan
Journal: Front Surg (2021)
Keywords: vas (analog visual scale), diagnosis, lumbar disc herniation, pain, sciatic herpes zoster
MeSH terms: Case Reports

Background: The symptoms of sciatic herpes zoster are sometimes difficult to distinguish from sciatica caused by lumbar disc herniation. We describe a case of suspected lumbar disc herniation with sciatic herpes zoster to reduce the rate of misdiagnosis. Case Report: A 55-year old man, male, developed low back pain after carrying heavy items 20 years ago. Characteristics of symptoms: 1. Symptoms were aggravated in the upright lumbar forward flexion position; 2. The VAS (leg) score was 8-9 points and the VSA (lumbar) score was 0 point; 3. It can be relieved when rested in the supine position; 4. It came on intermittently with radiation pain in the right lower limb. There were several attacks every year. One month ago, there was radiating pain in the right lower limb. The pain was from the back of the right hip, behind the thigh, in lateral crural region, to the back of the foot. And Symptoms worsened for 10 days. The VAS score was 8 points. Pain could not be relieved by rest or changing posture. There was no back pain, no lower limbs, weak walking, no claudication and other symptoms. Analgesics and neurotrophic drugs are ineffective. After the application of antiviral drugs, the radiation pain in the right lower extremity was significantly relieved. Conclusion: We describe this case in detail and discuss how to make an authentic diagnosis, with a concomitant literature review.
Female genital tuberculosis cases with distinct clinical symptoms: Four case reports
Authors: Gonul Aslan, Mahmut Ulger, Seda Tezcan Ulger, Huseyin Durukan, Faik Gurkan Yazici, Gurol Emekdas
Journal: Int J Reprod Biomed (2018)
Keywords: female genital tuberculosis, infertility, mycobacterium tuberculosis
MeSH terms: Case Reports

Background:
Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis. Genital TB (GTB) is a form of extrapulmonary TB that occurs more frequently in women, in whom it classically presents in association with menstrual irregularity, pregnancy loss and short and long-term sequelae especially infertility in infected women. Patients with GTB are usually young women diagnosed during workup for infertility. GTB is rare in postmenopausal women and responsible for only approximately 1% of postmenopausal bleeding. In this study, we aimed to evaluate the laboratory, clinical and demographic characteristics of female GTB cases.
Case:
We presented four female GTB cases with distinct clinical symptoms. All patients have no history of TB, and no acid-fast bacilli were seen in smears prepared from the clinical materials of the patients. Histopathological examinations revealed granulomatous inflammation in all patients.
Conclusion:
In the light of the clinical features of these cases we aimed to emphasize that, female GTB must be taken into account in the patients with different clinical symptoms like postmenopausal bleeding, menometrorrhagia, infertility, and menstrual irregularities. We believe that these symptoms will be helpful for the diagnosis and treatment of female GTB.
Life-threatening adenovirus infections in the setting of the immunocompromised allogeneic stem cell transplant patients
Authors: Cedar J Fowler, Jennifer Dunlap, Darcy Troyer, Peter Stenzel, Elliot Epner, Richard T Maziarz
Journal: Adv Hematol (2010)
MeSH terms: Case Reports

A single institution case series of adenovirus infections after allogeneic hematopoietic stem cell transplantation is presented to highlight the consideration for adenovirus infections as an etiology in patients with rapid hepatic or other sudden organ deterioration in the setting of apparent GVHD stabilization. The series also highlights that survival is limited with these infections often due in part to concomitant opportunistic infections. In addition, the pathophysiological events, such as GVHD and hepatic dysfunction, may complicate the clinical picture and delay therapy of an opportunistic infection. This is particularly true for adenoviral infections as they also have a distinct clinical picture in immunocompromised patients when compared to immune competent patients. Adenovirus infections also have the additional challenge that its treatment, cidofovir, has associated toxicities that can delay its administration. Recent developments has yielded an assay that can be used in the early detection and for serial determinations of adenovirus in patients with advanced GVHD, as well as a new therapeutic agent currently undergoing clinical trials.