OpenMed/multicare-articles huggingface dataset:
Cutaneous inflammatory malignant fibrous histiocytoma presenting with a leukemoid reaction: a case report and review of the literature
Authors: Jorge Hurtado-Cordovi, Boris Avezbakiyev, Marianne Frieri, Lester Freedman, Wondwoosen Gebre
Journal: Case Rep Med (2012)

Malignant fibrous histiocytoma (MFH) is the most common sarcoma found in adults. We discuss a case of inflammatory MFH of dermal/epidermal origin presenting with a severe leukemoid reaction (LR). A 60 years old white male presented to hematology/oncology clinic complaining of mild shortness of breath on exertion. Past medical history was remarkable for removal of a left upper extremity necrotic mass 4.4 × 3 × 3 cm. Microscopy of the specimen showed clear surgical margin, and tumor cells restricted to the dermis without lymphovascular invasion. Immunohistochemestry was positive for CD 68 and CD 99. Chest x-ray was negative for metastatic disease. White blood cell count was 109.4 k/mm(3) with 24 k/mm(3) band neutrophils, and absolute neutrophil count of 69 k/mm(3). CT scan of the thorax revealed numerous bilateral pulmonary nodules suspicious for metastasis. Based on these findings patient was diagnosed with metastatic cutaneous IMFH associated with a LR. Following review of medical literature, this appears to be the first reported case of inflammatory cutaneous MFH associated with LR. This histological variant is rare, and carries a poor prognosis. Thus, we would like to emphasize the need for investigating alternative therapies capable of improving the survival of these patients.
Facial reanimation by masseteric muscle- mandibular periosteum transfer
Authors: Ruholah Abbasi
Journal: World J Plast Surg (2013)
Keywords: facial reanimation, mandibular periosteum transfer, masseteric muscle
MeSH terms: Case Reports

Permanent facial paralysis is a catastrophic event for involved patients. In long lasting paralysis with severe facial muscles atrophy, masseter muscle transfer is a very good choice. But its greatest problem is postoperative elongation of flap and gradual diminishing of early results and loss of symmetry. This article advocate a new modification for resolving this problem with concomitant elevation of mandibular periosteum with masseter muscle, as a unit for lip and midface elevation.
Percutaneous Valvular Closure Followed by TAV-in-TAV Intervention during a Single Procedure in order to Treat a Severe Paravalvular Leak after Performing TAVI in a Bicuspid Aortic Stenosis
Authors: Georgios Tzimas, Eric Eeckhout, Panagiotis Antiochos, Christan Roguelov, Stephane Fournier, Brahim Harbaoui, Pierre Monney, Olivier Muller
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

In an era where transcatheter aortic valve implantation (TAVI) indications and utilization are expanding beyond high-risk patients, paravalvular leak remains the intervention's Achilles heel. Effective reduction of paravalvular leak is important in order to ensure an optimal clinical outcome. We present here the first case report in which percutaneous valvular closure using Amplatzer plugs followed by a TAV-in-TAV intervention during the same procedure managed to resolve a severe paravalvular leak with haemodynamic instability, after TAVI for a bicuspid aortic stenosis.
Plasma Exchange in the Management of Catastrophic Antiphospholipid Syndrome
Authors: Dimitri Titeca-Beauport, Valery Salle, Loay Kontar, Julien Maizel, Gabriel Choukroun
Journal: Case Rep Crit Care (2016)

Objective. Report of a case of catastrophic antiphospholipid syndrome (CAPS) with multiple organ involvement leading to a life-threatening condition despite early combination corticosteroid and heparin therapy. Initiation of plasma exchange led to rapid improvement of the patient's general condition. Design.
Case report:

Setting. University teaching hospital medical intensive care unit. Patient. Single case: 52-year-old man hospitalized for catastrophic antiphospholipid syndrome (CAPS) with cardiac, renal, and cutaneous involvement. Despite early methylprednisolone and heparin therapy, the patient's condition progressively deteriorated, resulting in acute renal failure, right adrenal hemorrhage, and pulmonary involvement, leading to acute respiratory distress on day 6, requiring high-flow nasal cannula oxygen therapy with FiO2 of 1.0. Interventions. Plasma exchange was started on day 6. Endpoints and Main Results. A marked improvement of the patient's general condition was observed after initiation of plasma exchange, with successful weaning of oxygen therapy and normalization of platelet count, troponin, and serum creatinine within four days. Conclusions. This case illustrates the efficacy of plasma exchange in CAPS and the difficulty for physicians to determine the optimal timing of plasma exchange.
Case Report: Human Umbilical Cord Mesenchymal Stem Cells as a Therapeutic Intervention for a Critically Ill COVID-19 Patient
Authors: Quan Zhang, Kang Huang, Jianlei Lv, Xiang Fang, Jun He, Ailian Lv, Xuan Sun, Lamei Cheng, Yanjun Zhong, Shangjie Wu, Yao Dai
Journal: Front Med (Lausanne) (2021)
Keywords: covid-19, case report, critically ill, mesenchymal stem cells, therapy
MeSH terms: Case Reports

Here we report a critically ill patient who was cured of SARS-CoV-2 infection in Changsha, China. A 66-year-old Chinese woman, with no significant past medical history, developed severe pneumonia-like symptoms and later diagnosed as severe COVID-19 pneumonia. Within 2 months of hospitalization, the patient deteriorated to ARDS including pulmonary edema and SIRS with septic shock. When treatment schemes such as antibiotics plus corticosteroids showed diminished therapeutic value, hUCMSC therapy was compassionately prescribed under the patient's consent of participation. After treatment, there was significant improvement in disease inflammation-related indicators such as IL-4, IL-6, and IL-10. Eventually, it confirmed the therapeutic value that hUCMSCs could dampen the cytokine storm in the critically ill COVID-19 patient and modulated the NK cells. In the continued hUCMSC treatment, gratifying results were achieved in the follow-up of the patient. The data we acquired anticipate a significant therapeutic value of MSC treatment in severe and critically ill patients with COVID-19, while further studies are needed.
Atrial fibrillation in a pediatric patient caused by an unusual malignant etiology: A case report
Authors: Jelena Hubrechts, Christophe Vô, Cécile Boulanger, Katherine Carkeek, Stéphane Moniotte
Journal: Front Pediatr (2023)
Keywords: atrial fibrillation, cardiac involvement, cardioversion, child, lymphoma, pericardial invasion
MeSH terms: Case Reports

This case report describes a 15-year-old patient with a known congenital malformation syndrome and immune deficiency, presenting with new-onset atrial fibrillation (AF) after a recent diagnosis of an intrathoracic mass. Transthoracic echocardiography showed a structurally and functionally normal heart and workup confirmed a primary diffuse large B-cell lymphoma, with pericardial and left atrial involvement on cardiac magnetic resonance imaging. Electrical cardioversion was successfully performed to convert the AF and chemotherapy was promptly started. Antiarrhythmic treatment was continued for 6 weeks, without recurrent AF. We discuss the pathogenesis of AF in the setting of malignancies as well as the management strategies of AF, mainly based on adult guidelines.
Pseudoaneurysm rupture causing hemoperitoneum following rectal impalement injury: A case report
Authors: Pyong Wha Choi
Journal: Int J Surg Case Rep (2019)
Keywords: hemoperitoneum, impalement injury, pseudoaneurysm, rectum

Introduction:
Although vascular anatomy of the rectum is complex, pseudoaneurysm followed by massive hemoperitoneum after rectal impalement injury is extremely rare.
Case presentation:
A 43-year-old man presented with abdominal distension. One day earlier, he had undergone sigmoid loop colostomy for rectal implement injury at a local hospital. After the operation, he had become hemodynamically unstable. Digital rectal examination showed a penny-sized anterior rectal wall defect 6 cm from the anal verge. Computed tomography (CT) revealed a hematoma (12 × 10 × 15 cm) with bleeding in the pelvic cavity and an adjacent pseudoaneurysm in the rectum. A large amount of blood and massive hematoma were evacuated by surgery. The Hartmann procedure was performed, but the pseudoaneurysm was not resected. On the 11th postoperative day, hemoglobin decreased (11.6 g/dL-7.9 g/dL), and CT revealed a recurrent hematoma (6.0 × 4.2 cm) in the pelvic cavity, with a residual pseudoaneurysm. Angiography failed to localize the pseudoaneurysm. Consequently, prophylactic embolization at the anterior branch of both the internal iliac arteries was performed. The subsequent hospitalization course was uneventful.
Discussion:
Rectal impalement injury may result in pseudoaneurysm of the rectal arteries. However, pseudoaneurysm rupture of the mid rectal artery, followed by massive hemoperitoneum, has not been reported in the English literature. From our experience, preoperative diagnosis of a pseudoaneurysm is crucial for definite surgical management. When surgical resection is indicated, it should include the underlying pseudoaneurysm.
Conclusion:
Although pseudoaneurysm rupture causing hemoperitoneum after a rectal impalement injury is extremely rare, meticulous preoperative evaluation is necessary for correct management.
Modified Descemet's Stripping Automated Endothelial Keratoplasty: The Use of Ophthalmic Viscoelastic Devices in Hypotonic Eyes That Had Undergone Glaucoma Filtering Surgeries
Authors: Itaru Oyakawa, Takahiko Hayashi, Toshiki Shimizu, Naoko Kato
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

Purpose:
Descemet's stripping automated endothelial keratoplasty (DSAEK) is more difficult in hypotonic eyes with filtering bleb, due to the difficulties in elevating the intraocular pressure (IOP). We report a new method that uses ophthalmic viscoelastic devices (OVDs) to achieve good graft adhesion.
Case presentation:
We performed modified DSAEK surgery on 2 eyes of 2 patients, who had previously undergone a trabeculectomy. Both eyes had functioning filtering blebs; the IOP was lower than 10 mmHg without medication. After the graft was inserted into the anterior chamber, the conjunctiva was penetrated, apart from the bleb, using a 30 G needle, and Healon V® was injected into the bleb until the encapsulated space was filled completely. Air was subsequently injected into the anterior chamber to promote the graft attachment to the back surface of the cornea. The IOP was elevated above 40 mmHg in both eyes 1 h after surgery and then decreased to less than 30 mmHg over the subsequent 3 h period. The implanted graft showed good adhesion and no dislocation.
Conclusions:
Our novel DSAEK procedure that adds one step of OVD injection into the filtering bleb may be useful for hypotonic eyes that had undergone filtering surgeries.
Benign fibroxanthoma of the mandible
Authors: L Zouloumis, C Iliopoulos, M Lazaridou, T Zarampoukas
Journal: J Oral Maxillofac Pathol (2011)
Keywords: benign, fibroxanthoma, histiocytoma, mandible
MeSH terms: Case Reports

Histiocytomas constitute a large group of tumors, the classification of which created a lot of confusion in the past. For this reason, various attempts were carried out during the last years so that a widely accepted classification system could be defined. Fibroxanthomas, according to contemporary data, are classified into benign histiocytomas and they are mostly located at the skin of extremities. They are rarely localized in the area of the head and neck, where they are found commonly in soft tissue. Fibroxanthomas located at the bones of oral and maxillofacial region are extremely rare. The purpose of this paper is to present a case of a fibroxanthoma located at the mandible as well as to analyze the histological findings of the lesion on which the diagnosis and differential diagnosis were based.
Clinical, cytogenetic and molecular study of a case of ring chromosome 10
Authors: Živilė Čiuladaitė, Birutė Burnytė, Danutė Vansevičiūtė, Evelina Dagytė, Vaidutis Kučinskas, Algirdas Utkus
Journal: Mol Cytogenet (2015)
Keywords: array-cgh, bronchial asthma, dysmorphic features, ring chromosome 10
MeSH terms: Case Reports

Ring chromosome 10 is a rare cytogenetic finding. Only a few cases with molecular cytogenetic definition have been reported. We report here on a child with a ring chromosome 10, which is associated with prenatal and postnatal growth retardation, microcephaly, dysmorphic features, hypotonia, heart defect, severe pes equinovarus, and bronchial asthma. The chromosomal aberration was defined by chromosome microarray analysis, which revealed two deletions at 10pter (3.68 Mb) and 10qter (4.26 Mb). The clinical features are very similar to those reported in other clinical cases with ring chromosome 10, excluding bronchial asthma, which has not been previously reported in individuals with ring chromosome 10.
Primary Cutaneous Anaplastic Large Cell Lymphoma of the Oral Cavity Successfully Treated with Brentuximab Vedotin
Authors: Federico Meconi, Roberto Secchi, Raffaele Palmieri, Sara Vaccarini, Vito Mario Rapisarda, Laura Giannì, Fabiana Esposito, Ida Provenzano, Daniela Nasso, Livio Pupo, Maria Cantonetti
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Primary cutaneous anaplastic large cell lymphoma is a CD-30 positive lymphoproliferative disorder with good prognosis, usually treated with radiation therapy and surgery. Head, neck, and extremities are the most frequently involved sites. In this paper, we describe an unusual case of oral localization, recurring after skin-involving radiotherapy, successfully treated with sixteen cycles of brentuximab vedotin. This could be a more effective approach with a less detrimental toll for treating these rare disorders.
Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene
Authors: F Fontanella, M C van Maarle, P Robles de Medina, R J Oostra, R R van Rijn, E Pajkrt, C M Bilardo
Journal: Case Rep Obstet Gynecol (2016)
MeSH terms: Case Reports

Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regression syndrome, in four fetuses reported to be homozygous for a mutation in the T (brachyury) gene. The syndrome occurred in three consanguineous, but unrelated families, originating from the same geographical area. All affected fetuses had persistence of the notochord in association with abnormal vertebral ossification, sacral agenesis, and bilateral clubfoot. These findings suggest that, in case of prenatal diagnosis of sacral agenesis, an advanced ultrasound examination should assess the vertebral ossification and the rare persistence of the notochord, in order to rule the involvement of the T gene.
Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome
Authors: Cinthia Aguilera, Elisabeth Gabau, Steve Laurie, Neus Baena, Sophia Derdak, Núria Capdevila, Ariadna Ramirez, Veronica Delgadillo, Maria Jesus García-Catalan, Carme Brun, Miriam Guitart, Anna Ruiz
Journal: Mol Genet Genomic Med (2019)
Keywords: smarce1, angelman syndrome (as), coffin-siris syndrome (css), exome sequencing
MeSH terms: Angelman Syndrome / genetics, Chromosomal Proteins, Non-Histone / genetics, DNA-Binding Proteins / genetics, Phenotype, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Angelman Syndrome / pathology, Exome, Humans, Male, Mutation, Missense, RNA Splicing, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, SMARCE1 protein, human

Background:
Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS-like) do not have an identifiable molecular defect. Some of these patients harbor alternative genetic defects that present overlapping features with AS.
Methods:
Trio whole-exome sequence was performed on patient and parent's DNA extracted from peripheral blood. Exome data were filtered according to a de novo autosomal dominant inheritance. cDNA analysis was carried out to assess the effect of the splice site variant.
Results:
We identified a novel heterozygous SMARCE1 splicing variant that leads to an exon skipping in a patient with an Angelman-like phenotype. Missense variants in the SMARCE1 gene are known to cause Coffin-Siris syndrome (CSS), which is a rare congenital syndrome. Clinical reevaluation of the patient confirmed the presence of characteristic clinical features of CSS, many of them overlapping with AS.
Conclusions:
Taking into account the novel finding reported in this study, we consider that CSS should be added to the expanding list of differential diagnoses for AS.
Ketamine as an alternative to ECT in catatonia in elderly women with bipolar disorder: A case report
Authors: Shanthi Sarma, Arulmathy Arunachalam, Memunatu Kamara, Grace Branjerdporn
Journal: Front Psychiatry (2023)
Keywords: covid-19, bipolar disorder, catatonia, depression, electroconvulsive therapy (ect), ketamine
MeSH terms: Case Reports

The following paper described two cases of patients with catatonic depression in bipolar disorder (BD) referred to our electroconvulsive therapy (ECT) service. Both were deemed not medically fit for ECT, and were, instead, treated with intravenous (IV) ketamine. Both responded with a resolution of symptoms, returning to baseline level of functioning. During the COVID-19 pandemic, given the risks associated with providing ECT (an aerosol generating procedure) and, in the context of limited resources, ketamine therapy for catatonia is a potentially beneficial alternative or supportive treatment to ECT that merits additional research.
Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy
Authors: Inbal Halabi, Marie Noufi Barohom, Sarit Peleg, Phillippe Trougouboff, Ghadir Elias-Assad, Rhania Agbaria, Yardena Tenenbaum-Rakover
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: autoimmune enteropathy, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, autoimmune polyglandular type 1 syndrome, autoimmune regulator gene, chromogranin a, enteroendocrine cell, hypocalcemia
MeSH terms: Hypocalcemia / immunology, Hypocalcemia / physiopathology, Polyendocrinopathies, Autoimmune / immunology, Polyendocrinopathies, Autoimmune / physiopathology, Case Reports, Adolescent, Biopsy, Calcitriol / metabolism, Candidiasis / complications, Chromogranin A / pharmacology, Endocrine Cells, Female, Humans, Hypocalcemia / complications, Hypoparathyroidism / complications, Intestines / metabolism, Polyendocrinopathies, Autoimmune / complications, Rheumatology, Sequence Analysis, DNA, Transcription Factors / genetics, Vitamin D / metabolism, Vitiligo / complications, APECED protein, Chromogranin A, Transcription Factors, Vitamin D, Calcitriol, Autoimmune enteropathy

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic disorder, associated with endocrine deficiencies and non-endocrine involvement. Gastrointestinal (GI) manifestations appear in approximately 25% of patients and are the presenting symptom in about 10% of them. Limited awareness among pediatricians of autoimmune enteropathy (AIE) caused by destruction of the gut endocrine cells in APECED patients delays diagnosis and appropriate therapy. We describe an 18-year-old female presenting at the age of 6.10 years with hypoparathyroidism, oral candidiasis and vitiligo. The clinical diagnosis of APECED was confirmed by sequencing the autoimmune regulator-encoding (AIRE) gene. Several characteristics of the disease-Hashimoto's thyroiditis, Addison's disease, diabetes mellitus type 1 and primary ovarian insufficiency-developed over the years. She had recurrent episodes of severe intractable hypocalcemia. Extensive GI investigations for possible malabsorption, including laboratory analyses, imaging and endoscopy with biopsies were unremarkable. Revision of the biopsies and chromogranin A (CgA) immunostaining demonstrated complete loss of enteroendocrine cells in the duodenum and small intestine, confirming the diagnosis of AIE. Management of hypocalcemia was challenging. Only intravenous calcitriol maintained calcium in the normal range. Between hypocalcemic episodes, the proband maintained normal calcium levels, suggesting a fluctuating disease course. Repeated intestinal biopsy revealed positive intestinal CgA immunostaining. The attribution of severe hypocalcemic episodes to AIE emphasizes the need for increased awareness of this unique presentation of APECED. The fluctuating disease course and repeated intestinal biopsy showing positive CgA immunostaining support a reversible effect of GI involvement. CgA immunostaining is indicated in patients with APECED for whom all other investigations have failed to reveal an explanation for the malabsorption.
Herpes encephalitis masquerading as tumor
Authors: Tasneem Peeraully, Joseph C Landolfi
Journal: ISRN Neurol (2011)
MeSH terms: Case Reports

A 54 year old lady presented with lethargy and 15 kg weight loss over the past year. CT scan of the head revealed left temporal lobe hypodensity with a discrete area of hemorrhage within the left mesial temporal lobe. Due to concerns about impending central herniation, lumbar puncture was not performed. MRI of the brain showed a large lesion of the left temporal lobe, extending to the left frontal lobe, and very patchy meningeal enhancement. There was a noncontiguous lesion of the right insula. A differential diagnosis of herpes simplex encephalitis (HSE) and multifocal infiltrative glioma was entertained. MR spectroscopy demonstrated an increased choline peak at the level of the medial left temporal lobe and MR perfusion demonstrated patchy areas of hyperperfusion within the left anterior temporal lobe, both suggestive of neoplastic disease. Following open brain biopsy, pathology revealed herpes simplex virus (HSV) positive nuclei in the cortex and subcortical white matter. As both herpes simplex encephalitis and low-grade glioma demontrate MRI findings of hypointensity on T1 images and hyperintensity on T2 images, the diagnosis of herpes encephalitis can be clouded by confounding factors, especially when cerebrospinal fluid (CSF) cannot be obtained.
Fine needle aspiration biopsy diagnosis of metastatic neoplasms of the breast. A three-case report
Authors: Raquel Garza-Guajardo, Nora Mendez-Olvera, Juan Pablo Flores-Gutierrez, Silvia Hernandez-Martinez, Michelle Candanosa-Mc Cann, Jesús Ancer-Rodriguez, Oralia Barboza-Quintana
Journal: Cytojournal (2005)

Metastases to the breast are unusual lesions that make up approximately 2% of all malignant mammary neoplasms and may mimic both benign and malignant primary neoplasms from a clinical point of view, as well as in imaging studies. Arriving at a correct diagnosis is therefore essential in order to establish appropriate management. We present three cases of metastatic neoplasms diagnosed through fine needle aspiration biopsy and immunocytochemistry. The cytological diagnoses were: medulloblastoma in an 18-year-old woman, melanoma in a 26-year-old man, and an exceptional case of ovarian sarcoma originating from a granulosa cell tumor with metastases to both breasts. A metastatic disease should be considered in the differential diagnosis of a palpable mass in the breast, especially if there is a history of an extramammary malignant neoplasm. Fine needle aspiration biopsy is the method of choice for the management of these cases. Whenever possible the exam of the material obtained should be compared to the previous biopsy, which is usually enough to arrive at a correct diagnosis, thus preventing unnecessary surgical procedures.