OpenMed/multicare-articles huggingface dataset:
Molecular classification of tissue from a transformed non-Hogkin's lymphoma case with unexpected long-time remission
Authors: Julie Støve Bødker, Marianne Tang Severinsen, Tarec Christoffer El-Galaly, Rasmus Froberg Brøndum, Maria Bach Laursen, Steffen Falgreen, Mette Nyegaard, Alexander Schmitz, Lasse Hjort Jakobsen, Anna Amanda Schönherz, Hanne Due, Linn Reinholdt, Martin Bøgsted, Karen Dybkær, Hans Erik Johnsen
Journal: Exp Hematol Oncol (2017)
Keywords: drug resistance prediction, long-time remission, molecular classification, rituximab palliation, transformed lymphoma
MeSH terms: Case Reports

Background:
The concept of precision medicine in cancer includes individual molecular studies to predict clinical outcomes. In the present N = 1 case we retrospectively have analysed lymphoma tissue by exome sequencing and global gene expression in a patient with unexpected long-term remission following relaps. The goals were to phenotype the diagnostic and relapsed lymphoma tissue and evaluate its pattern. Furthermore, to identify mutations available for targeted therapy and expression of genes to predict specific drug effects by resistance gene signatures (REGS) for R-CHOP as described at http://www.hemaclass.org. We expected that such a study could generate therapeutic information and a frame for future individual evaluation of molecular resistance detected at clinical relapse.
Case presentation:
The patient was diagnosed with a transformed high-grade non-Hodgkin lymphoma stage III and treated with conventional R-CHOP [rituximab (R), cyclophosphamide (C), doxorubicin (H), vincristine (O) and prednisone (P)]. Unfortunately, she suffered from severe toxicity but recovered during the following 6 months' remission until biopsy-verified relapse. The patient refused second-line combination chemotherapy, but accepted 3 months' palliation with R and chlorambucil. Unexpectedly, she obtained continuous complete remission and is at present >9 years after primary diagnosis. Molecular studies and data evaluation by principal component analysis, mutation screening and copy number variations of the primary and relapsed tumor, identified a pattern of branched lymphoma evolution, most likely diverging from an in situ follicular lymphoma. Accordingly, the primary diagnosed transformed lymphoma was classified as a diffuse large B cell lymphoma (DLBCL) of the GCB/centrocytic subtype by "cell of origin BAGS" assignment and R sensitive and C, H, O and P resistant by "drug specific REGS" assignment. The relapsed DLBCL was classified as NC/memory subtype and R, C, H sensitive but O and P resistant.
Conclusions:
Thorough analysis of the tumor DNA and RNA documented a branched evolution of the two clinical diagnosed tFL, most likely transformed from an unknown in situ lymphoma. Classification of the malignant tissue for drug-specific resistance did not explain the unexpected long-term remission and potential cure. However, it is tempting to consider the anti-CD20 immunotherapy as the curative intervention in the two independent tumors of this case.
Congenital splenic cyst - case study
Authors: C Iorga, V Strambu, F Popa, C Puscu, P Radu
Journal: J Med Life (2011)
Keywords: pseudocyst, splenectomy
MeSH terms: Cysts / congenital, Splenic Diseases / congenital, Case Reports, Adult, Cysts / surgery, Female, Humans, Splenectomy, Splenic Diseases / surgery

Background:
Splenic cysts represent a pathology seldom encountered in practice, the most often etiology being, parasitic, congenital and pseudo-cysts, which usually appear post-traumatically or after a splenic infarction.Splenic cysts indicate a surgical treatment when they are large (and thus present a high risk for complications such as rupture, hemorrhaging, compression of the neighboring organs), when they are symptomatic or present complications.
Case report:
We present the case of a patient diagnosed with splenic cyst in our Clinic, its discovery being incidental, while conducting investigations for an abdominal pain syndrome.
Discussions:
The clinical case presented completely abides to the literary description-the diagnostic has been incidental, the large size of the cyst has determined the need for surgery (splenectomy), its etiology has been established by means of anatomo-pathological report (the presence of the epithelial inner wall that indicates congenital cysts).
Unicuspid Aortic Stenosis in a Patient with Turner Syndrome: A Case Report
Authors: Michael Essandoh, Karina Castellon-Larios, Alix Zuleta-Alarcon, Juan Guillermo Portillo, Juan A Crestanello
Journal: Front Cardiovasc Med (2014)
Keywords: turner syndrome, aortic stenosis, electrocardiographically gated cardiac multidetector computed tomography, transesophageal echocardiography, unicuspid valve

Congenital aortic valve anomalies are the cause of premature aortic stenosis in pediatric and younger adult populations. Despite being very rare, unicuspid aortic valves account for approximately 5% of isolated aortic valve replacements. Patients with aortic stenosis, present with the same symptomatology independent of leaflet morphology. However, the presence of bicuspid and unicuspid aortic stenosis is associated with a higher incidence of aortopathy, especially in Turner syndrome patients. Turner syndrome, an X monosomy, is associated with aortic valve anomalies, aortopathy, and hypertension. These risk factors lead to a higher incidence of aortic dissection in this population. Patients with Turner syndrome and aortic stenosis that present for aortic valve replacement should therefore undergo extensive aortic imaging prior to surgery. Transthoracic echocardiography is the diagnostic tool of choice for valvular pathology, yet it can misdiagnose unicuspid aortic valves as bicuspid valves due to certain similarities on imaging. Transesophageal echocardiography is a better tool for distinguishing between the two valvular abnormalities, although diagnostic errors can still occur. We present a case of a 50-year-old female with history of Turner syndrome and bicuspid aortic stenosis presenting for aortic valve replacement and ascending aorta replacement. Intraoperative transesophageal echocardiography revealed a stenotic unicommissural unicuspid aortic valve with an eccentric orifice, which was missed on preoperative imaging. This case highlights the importance of intraoperative transesophageal echocardiography in confirming preoperative findings, diagnosing further cardiac pathology, and ensuring adequate surgical repair.
A Case of Severe Multisystem Inflammatory Syndrome in Children (MIS-C) Treated with Multiple Biologics
Authors: Beenish Zulfiqar, Hira Imran, Kathleen Collins
Journal: Case Rep Rheumatol (2022)
MeSH terms: Case Reports

The COVID-19 virus has impacted global health on a wide scale, affecting humans of all ages and ethnicities. While most have mild upper respiratory viral symptoms, some have died due to severe pneumonia, acute respiratory distress syndrome (ARDS), or coagulopathies to mention a few. It has been postulated that the COVID-19 virus can initiate an autoinflammatory reaction in the body via multiple pathways of cytokine activation. The virus can cause delayed response after 4-8 weeks of acute infection, which resembles a cytokine storm or MAS (macrophage activation syndrome). This highly inflammatory syndrome, called MIS-C or multisystem inflammatory response syndrome, needs to be diagnosed and treated early to prevent multiorgan damage and mortality. There are widespread lab abnormalities including highly elevated acute phase reactants ferritin, D-Dimer, lactate dehydrogenase (LDH), creatinine kinase (CK), sedimentation rate (ESR), and C-reactive protein (CRP) as well as markers of cardiac damage including troponin and brain natriuretic peptide (BNP). The syndrome can present in unique ways from classic MIS-C with hypovolemic shock to Kawasaki disease-like presentation. We present a case of a 12-year-old boy who presented to Le Bonheur Children's Hospital in Memphis with classic signs and symptoms of "severe" MIS-C requiring intubation, multiple pressors, ECMO, and renal replacement therapy. He was treated successfully with immunomodulating medicines including intravenous immune globulin (IVIG), steroids, interleukin-6 inhibitor, tumor necrosis factor-a inhibitor, interleukin-1 inhibitor, and Janus kinase inhibitor.
Multiple congenital granular cell epulis: case report and immunohistochemical profile with emphasis on vascularization
Authors: Patricia Roccon Bianchi, Vera Cavalcanti de Araujo, José Wagner Banterli Ribeiro, Fabricio Passador-Santos, Ney Soares de Araujo, Andresa Borges Soares
Journal: Case Rep Dent (2015)

Congenital granular cell epulis is a rare benign soft tissue lesion arising from the alveolar ridge in neonates. A rare case of multiple congenital granular cell epulis is reported, alongside a description of its vascular immunohistochemical profile. A female newborn presented with two exophytic pedunculated red nodules located on the alveolar ridge between the future eruption sites of the incisors and canines of the mandible and maxilla. A conservative surgical excision was performed on the second day of life. Histology revealed proliferation of round granular cells containing an abundant eosinophilic cytoplasm with basophilic nuclei, ranging from round to oval in shape. Numerous blood vessels were also seen. Immunohistochemical analysis of the granular cells revealed positivity for CD68, D2-40, Ki67, VEGF, and FGF and negativity for S100, CD34, and CD105. Immunostaining for CD34, CD105, and D2-40 confirmed the presence of a large number of blood and lymphatic vessels. Although rare, an understanding of this lesion is paramount for correct diagnosis and appropriate treatment. In the present report, the immunohistochemical profile confirmed increased vascularization, proving that these lesions are composed of not only new and preexisting blood vessels, but also lymphatic vessels.
Age-related EBV positive clonal B-cell Lymphoid proliferation (EBV+-DLBCL)
Authors: Eleni Georgakopoulou, Marina Doukas-Alexiou, Eleana Stoufi, Christos Kittas, Gerasimos Pangalis, George Laskaris
Journal: J Clin Exp Dent (2017)
MeSH terms: Case Reports

The Ebstein Barr virus(EBV), herpes virus 5 has been associated with lymphoproliferative disordrers. Age-related EBV+ B-LPD is defined as an EBV+ clonal B-cell lymphoid proliferation or EBV+-DLBCL developing in patients over the age of 40 years in the absence of any known immunodeficiency and without an underlying T-cell lymphoma1. We present a case of EBV+ clonal B-cell lymphoid proliferation. Key words:Oral mucosa ulcer, EBV+-DLBCL, age related.
Health care response to CCHF in US soldier and nosocomial transmission to health care providers, Germany, 2009
Authors: Nicholas G Conger, Kristopher M Paolino, Erik C Osborn, Janice M Rusnak, Stephan Günther, Jane Pool, Pierre E Rollin, Patrick F Allan, Jonas Schmidt-Chanasit, Toni Rieger, Mark G Kortepeter
Journal: Emerg Infect Dis (2015)
MeSH terms: Hemorrhagic Fever, Crimean / diagnosis, Infectious Disease Transmission, Patient-to-Professional, Case Reports, Antiviral Agents / therapeutic use, Cross Infection, Fatal Outcome, Germany, Hemorrhagic Fever, Crimean / transmission, Humans, Male, Military Personnel, Ribavirin / therapeutic use, United States / ethnology, Young Adult, Antiviral Agents, Ribavirin

In 2009, a lethal case of Crimean-Congo hemorrhagic fever (CCHF), acquired by a US soldier in Afghanistan, was treated at a medical center in Germany and resulted in nosocomial transmission to 2 health care providers (HCPs). After his arrival at the medical center (day 6 of illness) by aeromedical evacuation, the patient required repetitive bronchoscopies to control severe pulmonary hemorrhage and renal and hepatic dialysis for hepatorenal failure. After showing clinical improvement, the patient died suddenly on day 11 of illness from cerebellar tonsil herniation caused by cerebral/cerebellar edema. The 2 infected HCPs were among 16 HCPs who received ribavirin postexposure prophylaxis. The infected HCPs had mild or no CCHF symptoms. Transmission may have occurred during bag-valve-mask ventilation, breaches in personal protective equipment during resuscitations, or bronchoscopies generating infectious aerosols. This case highlights the critical care and infection control challenges presented by severe CCHF cases, including the need for experience with ribavirin treatment and postexposure prophylaxis.
A Case of Acute Colonic Pseudo-Obstruction (Ogilvie's Syndrome) in a Nonsurgical Patient with Plasma Cell Leukemia
Authors: Akbar Hamid, Jacob Sabu, Omar Elhawary, Isha Puri, Moro Salifu, Man Oh, Mary Mallappallil
Journal: Case Rep Nephrol (2022)
MeSH terms: Case Reports

Ogilvie's syndrome, also known as acute colonic pseudo-obstruction (ACPO), is a rare, nonobstructive dilation of the colon of unclear etiology. We present the case of a patient who presented with Ogilvie's syndrome and significant hypokalemia due to colonic loss despite repletion. This case report demonstrates the difficulty in diagnosis, treatment, and outcome.
Rare Dihydropyrimidine Dehydrogenase Variants and Toxicity by Floropyrimidines: A Case Report
Authors: Raffaele Palmirotta, Domenica Lovero, Hervé Delacour, Audrey Le Roy, Serge Cremades, Franco Silvestris
Journal: Front Oncol (2019)
Keywords: capecitabine, dihydropyrimidine dehydrogenase, fluoropyrimidine, gene variation, pharmacogenomics, toxicity
MeSH terms: Case Reports

Variations in the activity, up to absolute deficiency, of the enzyme dihydropyrimidine dehydrogenase (DPD), result in the occurrence of adverse reactions to chemotherapy, and have been included among the pharmacogenetic factors underlying inter-individual variability in response to fluoropyrimidines. The study of single-nucleotide polymorphisms of the DPYD gene, which encodes the DPD enzyme, is one of the main parameters capable of predicting reduced enzymatic activity and the consequent influence on fluoropyrimidine treatment, in terms of reduction of both adverse reactions and therapeutic efficacy in disease control. In this paper, we describe a patient with metastatic breast cancer showing signs of increased toxicity following capecitabine therapy. The DPD enzyme activity analysis revealed a partial deficiency. The study of the most frequent polymorphisms of the DPYD gene suggested a wild-type genotype but indicated a novel variant c.1903A>G (p.Asn635Asp), not previously described, proximal to the splice donor site of exon 14. After excluding the potential pathogenic feature of the newly-identified variant, we performed cDNA sequencing of the entire DPYD coding sequence. This analysis identified the variants c.85T>C and c.496A>G, which were previously described as pivotal components of the haplotype associated with decreased enzyme activity and suggested that both variant alleles are related to DPD deficiency. The clinical case findings described in this study emphasize the importance of performing complete genetic analysis of the DPYD gene in order to identify rare and low frequency variants potentially responsible for toxic reactions to fluoropyrimidine treatment.
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene
Authors: Catarina Dias, Lara Isidoro, Mafalda Santos, Helena Santos, Jorge Sales Marques
Journal: Case Rep Genet (2013)

Background. Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities. TRPS II includes the additional characteristics of mental retardation and multiple exostoses. Case Report. We describe a sporadic case of TRPS type I in a child with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity-c.1198C>T (p. Gln400X) and c.2086C>T (p.Arg696X). None of these mutations were found in her parents. Clinical presentation included typical hair and facial features, as well as slight skeletal abnormalities. Discussion. There is a wide variability in clinical expression of TRPS I. Manifestations of the disease can be subtle, yet skeletal anomalies imply that TRPS I is more than an esthetic problem. Clinical and genetic diagnosis allows adequate followup and timely therapeutic procedures. When a single mutation was sufficient for the onset of the disease, our patient presented two different ones.
Free temporal fascia flap to cover soft tissue defects of the foot: a case report
Authors: Martin Schreiber, Adrian Dragu
Journal: GMS Interdiscip Plast Reconstr Surg DGPW (2015)
Keywords: defect lower extremities, flap reconstruction, flap reconstruction and foot, lye acid surgery, reconstruction foot, temporoparietal fascia flap, trauma foot
MeSH terms: Case Reports

Severe soft tissue defects as a result of lye contamination remain a huge challenge in the interdisciplinary approach of trauma surgeons and plastic surgeons. Free tissue transfer is a suitable surgical option for successful reconstruction of form and function of defects in the distal parts of the lower extremities. We report the successful two-stage reconstruction of a full thickness lye contamination at the dorsum of the foot with a free temporoparietal fascia flap covered with a split-thickness skin graft from the thigh. The described method is a suitable operative alternative to anterolateral thigh flaps or other thin fascia flaps regarding flap harvest and donor site morbidity and should be considered in the portfolio of the plastic surgeon.
Brown tumor as a result of hyperparathyroidism in an end-stage renal disease patient
Authors: Jesse M Jakubowski, Ines Velez, Shawn A McClure
Journal: Case Rep Radiol (2011)
MeSH terms: Case Reports

A 49-year-old male with known history of end-stage renal disease (ESRD) presents with an intraoral exophytic mass of the right mandible. This lesion was given a histologic diagnosis of a Brown tumor. Purpose. To allow physicians to include this lesion in a differential diagnosis when evaluating patients with primary, secondary, or tertiary hyperparathyroidism.
Concomitant Guillain-Barré syndrome and cerebral venous thrombosis complicating a SARS-CoV-2 infection: a case report
Authors: Hajar Qorchi, Najib Kissani, Mohamed Chraa
Journal: Pan Afr Med J (2022)
Keywords: cerebral venous thrombosis, guillain-barré syndrome, sars-cov-2, case report
MeSH terms: Bell Palsy / complications, COVID-19 / complications, COVID-19 / diagnosis, Guillain-Barre Syndrome / complications, Guillain-Barre Syndrome / diagnosis, Intracranial Thrombosis / complications, Intracranial Thrombosis / etiology, Venous Thrombosis / complications, Venous Thrombosis / etiology, Case Reports, Aged, Brain, Humans, SARS-CoV-2

Cerebral venous thrombosis associated to acute inflammatory axonal polyneuropathy during infection with SARS-CoV-2 (coronavirus-2) is unusual. We describe the case of a 66-year-old patient with typical clinical and electrophysiological criteria of acute axonal motor neuropathy, who was positive for SARS-CoV-2. The symptoms started with fever associated with respiratory symptoms, and complicated one week later by headaches, and general weakness. The examination showed bilateral peripheral facial palsy, predominantly proximal tetraparesis, and areflexia with tingling of limbs were found. The whole was concomitant with the diagnosis of an acute polyradiculoneuropathy. Electrophysiologic evaluation confirmed the diagnosis. Cerebrospinal fluid examination showed albuminocytologic dissociation, and brain imaging revealed sigmoid sinus thrombophlebitis. Neurological manifestations improved during treatment with plasma exchange and anticoagulants. Our case draws attention to the occurrence of cerebral venous thrombosis and Guillain-Barré syndrome (GBS) in patients with COVID-19. The neuro-inflammation induced by the systemic immune response to infection, can lead to neurological manifestations. Further studies should be conducted on the full clinical spectrum of patients with COVID-19 with neurological symptoms.
Tenogenically Induced Allogeneic Mesenchymal Stem Cells for the Treatment of Proximal Suspensory Ligament Desmitis in a Horse
Authors: Aurélie Vandenberghe, Sarah Y Broeckx, Charlotte Beerts, Bert Seys, Marieke Zimmerman, Ineke Verweire, Marc Suls, Jan H Spaas
Journal: Front Vet Sci (2015)
Keywords: allogenic, horse, stem cells, suspensory, tendon
MeSH terms: Case Reports

Suspensory ligament injuries are a common injury in sport horses, especially in competing dressage horses. Because of the poor healing of chronic recalcitrant tendon injuries, this represents a major problem in the rehabilitation of sport horses and often compromises the return to the initial performance level. Stem cells are considered as a novel treatment for different pathologies in horses and humans. Autologous mesenchymal stem cells (MSCs) are well known for their use in the treatment of tendinopathies; however, recent studies report a safe use of allogeneic MSCs for different orthopedic applications in horses. Moreover, it has been reported that pre-differentiation of MSCs prior to injection might result in improved clinical outcomes. For all these reasons, the present case report describes the use of allogeneic tenogenically induced peripheral blood-derived MSCs for the treatment of a proximal suspensory ligament injury. During conservative management for 4 months, the horse demonstrated no improvement of a right front lameness with a Grade 2/5 on the American Association of Equine Practitioners (AAEP) scale and a clear hypo-echoic area detectable in 30% of the cross sectional area. From 4 weeks after treatment, the lameness reduced to an AAEP Grade 1/5 and a clear filling of the lesion could be noticed on ultrasound. At 12 weeks (T 4) after the first injection, a second intralesional injection with allogeneic tenogenically induced MSCs and platelet-rich plasma was given and at 4 weeks after the second injection (T 5), the horse trotted sound under all circumstances with a close to total fiber alignment. The horse went back to previous performance level at 32 weeks after the first regenerative therapy and is currently still doing so (i.e., 20 weeks later or 1 year after the first stem cell treatment). In conclusion, the present case report demonstrated a positive evolution of proximal suspensory ligament desmitis after treatment with allogeneic tenogenically induced MSCs.