OpenMed/multicare-articles huggingface dataset:
Case Report: Behavioral Disorder Following Hemispherotomy: A Valproate Effect?
Authors: Konstantin L Makridis, Sebastian Triller, Deniz A Atalay, Christine Prager, Christian E Elger, Angela M Kaindl
Journal: Front Neurol (2021)
Keywords: behavioral problems, children, drug resistant epilepsy, epilepsy surgery, hemispherotomy, pediatrics, valproic acid
MeSH terms: Case Reports

Background: Hemispherotomy is an epilepsy surgery procedure applied to cure particularly pharmacorefractory lesional epilepsy due to unihemispheric pathologies. Such a disconnection of an entire hemisphere is followed by reorganizational processes. Methods: We describe an acute aggravation of behavioral problems following a hemispherotomy in a patient treated with valproic acid, which subsided once valproate was discontinued. Results: A 9-year-old boy with drug-resistant epilepsy caused by the residua of a perinatal stroke treated for several years with valproic acid and lamotrigine underwent hemispherotomy. Shortly after surgery, minimal preoperative behavioral problems intensified dramatically, and aggression occurred as a new symptom. Assuming a correlation between valproate treatment and the postoperative altered neuronal network, we tapered off valproate. The behavioral problems decreased in intensity with the reduction of valproate dose and disappeared after drug discontinuation. Conclusion: We describe severe behavioral problems after hemispherotomy that subsided when valproate was tapered off. While we cannot rule out a spontaneous correction of a post-hemispherotomy network dysregulation, our report raises awareness to possible altered effects of the anticonvulsant valproic acid parallel to reorganizational processes after hemispherotomy.
Case Report: Clinical and Serological Hallmarks of Cytokine Release Syndrome in a Canine B Cell Lymphoma Patient Treated With Autologous CAR-T Cells
Authors: Matthew J Atherton, Antonia Rotolo, Kumudhini P Haran, Nicola J Mason
Journal: Front Vet Sci (2022)
Keywords: car-t cells, canine b cell lymphoma, comparative oncology, cytokine release syndrome (crs), spontaneous tumor model
MeSH terms: Case Reports

Background:
Chimeric antigen receptor-T (CAR-T) cells have transformed the treatment of human B cell malignancies. With the advent of CAR-T therapy, specific and in some cases severe toxicities have been documented with cytokine release syndrome (CRS) being the most frequently reported. As dogs develop tumors spontaneously and in an immunocompetent setting, they provide a unique translational opportunity to further investigate the activity and toxicities associated with CAR-T therapy. Although various adoptive cellular therapy (ACT) trials have been documented and several more are ongoing in canine oncology, CRS has not been comprehensively described in canine cancer patients.
Case presentation:
Here we present the clinical and serologic changes in a dog treated with autologous CAR-T for relapsed B cell lymphoma that presented with lethargy and fever 3 days following CAR-T. Multiplexed serum cytokine profiling revealed increases in key cytokines implicated in human CRS including IL-6, MCP-1, IFNγ and IL-10 at or shortly after peak CAR-T levels in vivo.
Conclusion:
The observations noted in this case report are consistent with CRS development following CAR-T therapy in a canine patient. The dog represents a compelling model to study the pathophysiology of CRS and pre-clinically screen novel therapeutics to prevent and treat this life-threatening condition in the setting of a complex and naturally evolved immune system.
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
Authors: Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou
Journal: PLoS One (2017)
MeSH terms: Glycine-tRNA Ligase / genetics, Mitochondria / metabolism, Mutation / genetics, Case Reports, Adolescent, Base Sequence, Cells, Cultured, Child, Computer Simulation, Conserved Sequence, Electron Transport, Female, Fibroblasts / metabolism, Heterozygote, Humans, Immunoblotting, Liver / pathology, Muscle, Skeletal / pathology, Phenotype, Sequence Analysis, DNA, Spectrophotometry, Glycine-tRNA Ligase

Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472), and/or distal spinal muscular atrophy type V (dSMA-V; OMIM 600794). In this study, we report a patient with clinical and biochemical features suggestive of a mitochondrial respiratory chain (MRC) disorder including mild left ventricular posterior wall hypertrophy, exercise intolerance, and lactic acidosis. Using whole exome sequencing we identified compound heterozygous novel variants, c.803C>T; p.(Thr268Ile) and c.1234C>T; p.(Arg412Cys), in GARS in the proband. Spectrophotometric evaluation of the MRC complexes showed reduced activity of Complex I, III and IV in patient skeletal muscle and reduced Complex I and IV activity in the patient liver, with Complex IV being the most severely affected in both tissues. Immunoblot analysis of GARS protein and subunits of the MRC enzyme complexes in patient fibroblast extracts showed significant reduction in GARS protein levels and Complex IV. Together these studies provide evidence that the identified compound heterozygous GARS variants may be the cause of the mitochondrial dysfunction in our patient.
Squamous Cell Carcinoma of the Conjunctiva in a Patient With Previous Squamous Cell Carcinoma of the Lower Lip
Authors: Patricia Chow Liu, Francisca Bragança, Miguel Gomes, Marta Sousa, Katia Ladeira
Journal: Cureus (2023)
Keywords: conjunctiva, conjunctival carcinoma, conjunctival tumor, ocular surface squamous neoplasia, squamous cell carcinoma (scc)
MeSH terms: Case Reports

Squamous cell carcinoma (SCC) of the conjunctiva is a rare malignancy that is part of the spectrum of ocular surface squamous neoplasia (OSSN). Numerous non-modifiable and modifiable risk factors, such as male sex, age, cigarette smoking, and immunosuppression, have been identified. Any lesion of the conjunctiva requires a differential diagnosis between benign and malignant diseases, and all suspicious lesions should be biopsied. We present a case of SCC of the conjunctiva in a former smoker with multiple risk factors, including a previous SCC of the lower lip. Metastatic tumors rarely occur in the conjunctiva, but due to our patient's medical history, the exclusion of metastasis from the previous primary tumor was performed through whole-body imaging restaging. The patient underwent a no-touch wide resection, followed by adjuvant topical chemotherapy with 5-fluorouracil (5-FU). After finishing treatment, the patient continues to attend regular ophthalmology and oncology appointments. Increasing population awareness of modifiable risk factors for OSSN is essential. Misdiagnosis can lead to a loss of time in treatment and progression of the disease.
Pericardial Tamponade: An Uncommon Clinical Presentation in cANCA Related Vasculitis and Glomerulonephritis in Association with Very High Titres of ANA
Authors: Amaresh Vanga, Amna Z Rana, Jolanta Kowalewska, Harlan Rust
Journal: Case Rep Nephrol (2019)
MeSH terms: Case Reports

ANCA (anti-neutrophil cytoplasmic antibody) vasculitides are systemic autoimmune diseases in which anti-neutrophilic cytoplasmic antibodies activate primed neutrophils, thereby generating an inflammatory cascade resulting in the damage of small sized blood vessels in various organs of the body, including the heart. Pleuropericardial involvement is underrecognized as a complication of ANCA vasculitis and is highlighted in this case report of a 51-year-old male who presented with an initial symptomatic presentation of pleuropericardial effusion progressing to pericardial tamponade in the setting of a later renal biopsy proven pauci-immune crescentic glomerulonephritis with high ANA titres along with positive cANCA (cytoplasmic ANCA) and PR3 (proteinase 3) antibodies. He was found to have acute renal failure which progressively got better with cyclophosphamide.
Chylous Cardiac Tamponade with Chylothoraces Secondary to Hodgkin's Lymphoma: Octreotide in Conjuncture with Standard of Care Dietary Fat Restriction
Authors: John O'Donnell, Jay Kirkham, Duane Monteith, Christopher Frontario, Rahul Sharma, Brianna Higgins
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

Chylous effusions are a well-known complication from a variety of etiologies including trauma, malignancies, and anatomic defects, with the most common location being in the pleural space. A pericardial chylous effusion (chylopericardium) is uncommon, and a chylopericardium with concomitant bilateral chylous pleural effusions (chylothoraces) has only been reported in less than a handful of case reports. Our patient presented with bilateral chylothoraces and a chylopericardium with tamponade physiology secondary to Hodgkin's Lymphoma. In this article, we discuss our treatment of this patient with the somatostatin analogue octreotide, as well as the standard of care dietary fat restriction, in order to control these effusions until the patient's chemotherapy took effect.
Corneal clearance and central endothelial cell repopulation despite graft detachment after Descemet membrane endothelial keratoplasty
Authors: Maria Daravagka, Andrei Nestler, Peter Wiedemann, Christian Girbardt
Journal: GMS Ophthalmol Cases (2019)
Keywords: dmek, corneal clearance, corneal graft detachment
MeSH terms: Case Reports

Objective: Descemet membrane endothelial keratoplasty (DMEK) is the gold standard procedure for treatment of primary corneal endothelial disorders. Graft detachment is a frequent complication of DMEK, which often requires re-operation or re-bubbling. However, several cases of spontaneous corneal clearance despite graft detachment after DMEK have been reported. The underlying mechanisms of this phenomenon are poorly understood. We report three cases of corneal clearance after graft detachment in patients with Fuchs endothelial dystrophy and provide a review of the literature. Methods: An 81-year-old and a 69-year-old phakic patient as well as a 56-year-old pseudophakic patient with Fuchs endothelial dystrophy underwent Triple-DMEK and DMEK, respectively. All three patients presented postoperatively with blurred vision due to an almost complete detachment of the graft, as shown by slit-lamp photography and anterior segment optical coherence tomography (OCT). Results: Without additional intervention, gradual corneal clearance and presence of endothelial cells on the posterior recipient's stroma were observed in all patients three months postoperatively. Increase in endothelial cell density, decrease in central corneal thickness (CCT), recovery of corneal transparency, and improvement of visual acuity were documented in all patients. Conclusions: Our findings support the theory of corneal clearance after Descemet membrane endothelial transfer (DMET) ("free-floating" donor Descemet graft in the recipient anterior chamber after descemetorhexis). Further understanding on endothelial homeostasis might lead to innovative approaches in handling endothelial disorders.
Polypoidal Choroidal Vasculopathy Complicating Retinal Laser in Quiescent Uveitis
Authors: Tomas R Burke, Susan L Lightman
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

A 58-year-old Afro-Caribbean gentleman with a diagnosis of quiescent systemic lupus erythematosus- (SLE-) related occlusive retinal vasculitis was previously treated with sector pan-retinal photocoagulation in his right eye to control temporal retinal neovascularization. At routine review he was found to have a focal area of subretinal fluid in the temporal macula sparing an ischaemic fovea. Fundus fluorescein angiography and indocyanine green angiography confirmed a branching vascular network (BVN) and terminal polys (i.e., polypoidal choroidal vasculopathy (PCV)). Interestingly, the BVN arose within an old laser scar. To our knowledge this is the first report of PCV in uveitis in an Afro-Caribbean patient and of the lesions arising within a laser scar.
INI1-Intact Sinonasal Carcinoma with Rhabdoid Features
Authors: Erin Mulry, Danielle M Blake, Poornima Hegde, Todd E Falcone
Journal: Case Rep Otolaryngol (2021)
MeSH terms: Case Reports

Sinonasal malignancies are known for their associated poor prognosis and diversity of histologic features. While poor prognosis is largely due to advanced disease at presentation, histologic features also play a significant role. Therefore, accurate pathologic diagnosis is of utmost importance. Here, we describe a 63-year-old male with chronic left-sided nasal obstruction and left-sided epistaxis who was found to have a large mass occupying most of the nasal cavity extending through the nasopharynx to just below the nasopharyngeal surface of the soft palate. During surgical excision, the mass was noted to originate from the floor of the maxillary sinus with erosion of the medial wall of the maxillary sinus. Pathology revealed a diagnosis of INI1-intact poorly differentiated composite carcinoma with rhabdoid phenotype and sarcomatoid and squamous cell carcinoma foci arising within an inverted papilloma. Included in this report is a detailed description of both the patient's medical course and this pathologically novel sinonasal neoplasm. We aim to elucidate this rare tumor's complex features in order to improve future diagnosis and stimulate prospective research on sinonasal malignancies with complex histology.
An Unusual Clinical Presentation of Solitary Fibrous Tumor in the Oral Cavity
Authors: Everton Freitas de Morais, Deborah Gondim Lambert Moreira, Viviane Alves De Oliveira, Rodrigo Rodrigues Rodrigues, Adriano Rocha Germano, Roseana de Almeida Freitas
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Solitary fibrous tumor is a rare neoplasm of mesenchymal origin that usually affects the pleura. This rarity becomes more relevant in the oral cavity since the clinical features are nonspecific. A 66-year-old female patient presented with a 3-month history of a swelling in the floor of the mouth, measuring 2 cm in greatest diameter, and pain symptomatology. Occlusal and panoramic radiographs showed no bone involvement. Ultrasonography of the submandibular and parotid salivary glands revealed normal morphology, dimensions, and echogenicity. During this exam, a nodular image of low echogenicity measuring about 2.7 × 1.8 cm was detected. An excisional biopsy was performed and histopathological analysis revealed a well-defined tumor-like lesion with alternation between hypercellular areas without a defined pattern and hypocellular areas. On immunohistochemistry, the tumor was positive for CD34 and CD99 and negative for α-SMA, S-100, and bcl-2. Combining the histopathological and immunohistochemical features, the diagnosis was solitary fibrous tumor. The patient is under periodical clinical follow-up and shows no signs of recurrence 7 months after surgical excision of the tumor. The combination of clinical-pathological and immunohistochemical features is necessary for the diagnosis.
Gossypiboma: retained surgical sponge after a gynecologic procedure
Authors: Aziz Sümer, M Ali Carparlar, Omer Uslukaya, Vedat Bayrak, Cetin Kotan, Ozgur Kemik, Umit Iliklerden
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

We report on a case of gossypiboma. A 54-year-old woman was admitted to our hospital with abdominal mass. She had undergone a caesarean operation 23 years previously. The mass in the right abdominal quadrant was suspected by abdominal computed tomography and magnetic resonance imaging. The mass was removed by laparotomy excision and the final diagnosis was gossypiboma.
Colonic involvement in a patient with chronic lymphocytic leukaemia
Authors: P E T Arkkila, H Nuutinen, F Ebeling, E Elonen, P Kärkkäinen, M-L Karjalainen-Lindsberg
Journal: Gastroenterol Res Pract (2008)
MeSH terms: Case Reports

Various gastrointestinal infiltrations have been described in patients with chronic lymphocytic leukaemia (CLL). Here, we report a 69-year-old man with CLL and anaemia in whom the macroscopic finding of colonoscopy was normal, but the histological specimens revealed lymphocytic leukemia in ileum and in colon. If a CLL patient has any symptoms suggesting a possible GI manifestation of the haematologic disease or anaemia not explained by bone marrow infiltration or hemolysis, the diagnostic evaluation should include endoscopies with adequate biopsies.
Case Report: Successful Treatment of Alopecia Universalis With Tofacitinib and Increased Cytokine Levels: Normal Therapeutic Reaction or Danger Signal?
Authors: Ling Yu, Huiqian Yu, Shuai Zhang, Yanzhao Hao, Shoumin Zhang
Journal: Front Immunol (2022)
Keywords: janus kinase inhibitor, alopecia universalis, cytokines, hair loss, tofacitinib
MeSH terms: Alopecia Areata / drug therapy, Janus Kinase Inhibitors / therapeutic use, Case Reports, Alopecia, Cytokines, Humans, Piperidines, Pyrimidines, Cytokines, Janus Kinase Inhibitors, Piperidines, Pyrimidines, tofacitinib, Alopecia universalis

Alopecia universalis (AU) is an autoimmune disorder characterized by non-scarring hair loss in the scalp, eyebrows, beard, and nearly the entire body, negatively affecting patient prognosis. Available treatments are usually unsatisfactory. The autoimmune attacks of hair follicles induced by CD8+ T cells and the collapse of hair follicle immune privilege are believed to be the leading causes of AU. Additionally, interferon (IFN)-γ plays an important role in triggering the collapse of hair follicle immune privilege and impairing hair follicle stem cells. Furthermore, the upregulation of Janus kinase (JAK)3 and phospho-signal transducer and activator of transcription (pSTAT)3/STAT1 in alopecia areata patients suggest that JAK inhibitors can be a potentially promising choice for AU patients for the reason that JAK inhibitors can interfere with JAK-STAT signaling pathways and inhibit IFN-γ. Herein, we report a case of AU successfully treated with tofacitinib. However, this beneficial response in the patient was accompanied by a remarkable increase in peripheral blood cytokine levels during tofacitinib treatment.
A Rare Clinical Presentation of Intraoral Darier's Disease
Authors: K G D Manoja, B S M S Siriwardena, P R Jayasooriya, D J L Siriwardane, W M Tilakaratne
Journal: Case Rep Pathol (2011)
MeSH terms: Case Reports

Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules primarily affecting seborrheic areas on the head, neck, thorax, and less frequently the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions present as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by "corps ronds and grains." This paper reports a case of an adult male patient who presented with painful whitish lesions on buccal mucosa with crusty lips as the only clinical sign of Darier's disease. As this patient did not have skin lesions or family history, an intraoral biopsy confirmed the diagnosis of Darier's disease by a multidisciplinary team.
Remission of Psychosis in Treatment-Resistant Schizophrenia following Bone Marrow Transplantation: A Case Report
Authors: Tsuyoshi Miyaoka, Rei Wake, Sadayuki Hashioka, Maiko Hayashida, Arata Oh-Nishi, Ilhamuddin Abdul Azis, Muneto Izuhara, Keiko Tsuchie, Tomoko Araki, Ryosuke Arauchi, Rostia Arianna Abdullah, Jun Horiguchi
Journal: Front Psychiatry (2017)
Keywords: acute myeloid leukemia, bone marrow transplantation, cellular therapy, curative treatment, immune alterations, maternal immune activation, schizophrenia
MeSH terms: Case Reports

The authors present the case of a 24-year-old male with treatment-resistant schizophrenia, with predominant severe delusion and hallucination, who received bone marrow transplantation (BMT) for acute myeloid leukemia. After BMT, he showed a remarkable reduction in psychotic symptoms without administration of neuroleptics. He also showed drastic improvement in social functioning. Follow-up evaluations 2 and 4 years after BMT showed persistent significant improvement of the psychotic state and social functioning. Recent findings show that the major underlying pathogenic mechanism of schizophrenia is immune dysregulation. Thus, conceptually, BMT, a cellular therapy, that facilitates the counteractive processes of balancing inflammation by immune regulation, could produce beneficial clinical effects in patients with treatment-resistant schizophrenia. Further studies are required to define the true benefits of BMT for the possible curative treatment of schizophrenia.
Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome
Authors: Sriharsha Talluri, Michael A Goedde, Eran Rosenberg, Katie L Canalichio, Dennis Peppas, Jeffrey T White
Journal: Front Pediatr (2021)
Keywords: chromosomal duplication, cryptorchidism, pediatric urology, prune belly syndrome, vesicoureteral reflux
MeSH terms: Case Reports

Prune belly syndrome (PBS) is a rare congenital disease that predominantly occurs in males and is identified by its classic triad of abdominal wall musculature deficiencies, cryptorchidism, and urinary tract abnormalities. However, numerous anomalies involving the kidneys, heart, lungs, and muscles have also been reported. A multitude of chromosomal abnormalities have been implicated in its pathogenesis. PBS can occur in association with trisomy 18 and 21. Gene duplications and deletions have also been reported; however, a definite cause of PBS is still unknown. We report the first PBS patient with a copy number variant in 16p11.2.