OpenMed/multicare-articles huggingface dataset:
Case report: Bordetella holmesii: A rare pathogen causing infective endocarditis associated glomerulonephritis
Authors: Tara Gavcovich, Malek Al Barbandi, Pamela Millan, Elizabeth Isner, Marissa J Defreitas, Wendy Glaberson, Chryso P Katsoufis, Jayanthi Chandar, Vaka Sigurjonsdottir, Ivan A Gonzalez, Sethuraman Swaminathan, Yiqin Zuo, Carolyn L Abitbol, Wacharee Seeherunvong
Journal: Front Pediatr (2023)
Keywords: bordetella holmesii, acute kidney injury, endocarditis (infectious), glomerulonephritis, hematuria
MeSH terms: Case Reports

Infective endocarditis (IE) can cause multiorgan dysfunction and chronic kidney disease, in addition to cardiac sequelae. The presentation may be vague and can manifest as acute glomerulonephritis. While the most common pathogens of infective endocarditis are Staphylococcus and Streptococcus species, we report a rare pathogen Bordetella holmesii causing infective endocarditis associated glomerulonephritis. A 20-year-old male patient with tetralogy of Fallot with pulmonary atresia and aortopulmonary collaterals underwent several cardiac surgeries including prosthetic pulmonary valve replacement in the past. He was admitted for 3 days at an outside hospital for fever, cough, and hemoptysis, and diagnosed with streptococcal pharyngitis, for which he received antibiotics. Five weeks later, he presented to our institution with lower extremity edema and gross hematuria. On examination, he was afebrile, normotensive, had a 7-kg weight gain with anasarca, and a systolic murmur, without rash. Investigations revealed elevated serum creatinine, nephrotic range proteinuria, hematuria, and hypocomplementemia, consistent with acute glomerulonephritis. Given his cardiac history, blood cultures were collected from three sites. Broad-spectrum antibiotics were initiated when he subsequently developed fever. Renal pathology on biopsy showed diffuse proliferative immune complex-mediated glomerulonephritis. Transesophageal echocardiogram visualized a vegetation on the pulmonary valve. Bordetella holmesii was ultimately cultured from the prior and current hospitalization. A serum sample detecting microbial cell-free DNA sequencing confirmed Bordetella holmesii at very high levels. After completing 6 weeks of intravenous antibiotics with concurrent angiotensin receptor blockade, his kidney function recovered with improvement in hypocomplementemia and proteinuria. This case report highlights the early recognition and comprehensive evaluation of a rare organism causing IE-associated GN, which allowed for renal recovery and preserved cardiac function.
Association of karyomegalic interstitial nephritis with focal segmental glomerulosclerosis
Authors: Momal Tara Chand, Awais Zaka, Hong Qu
Journal: Autops Case Rep (2021)
Keywords: focal segmental, glomerulosclerosis, interstitial, kidney, nephritis
MeSH terms: Case Reports

Karyomegalic interstitial nephritis (KIN), first described in 1974, is a rare form of chronic tubulointerstitial nephritis. It is defined by the presence of markedly enlarged, hyperchromatic nuclei with prominent nucleoli, mainly involving tubular epithelial cells of the kidney, accompanied by marked interstitial fibrosis. The disease presents as asymptomatic proteinuria, gradually progresses to chronic kidney disease and eventually leads to end-stage renal disease by 30-40 years. The etiology of the disease remains unclear; however, genetic risk factors and possible association with HLA (B27/35) is proposed by some. It has also been linked to FAN1 (FANCD2/FANC1- associated nuclease 1) mutation.
Case report:
We present two cases of KIN with associated focal segmental glomerulosclerosis. Both patients presented with nephrotic range proteinuria. The biopsies demonstrated marked enlargement of tubular nuclei (3-5x larger than the uninvolved tubular nuclei, a metric used by some authors in previous studies) in some tubules, meeting the diagnostic criteria of KIN.. Interestingly, case one had a prior biopsy that showed minimal change disease. In the biopsies done at our institution, H&E sections showed patchy tubular attenuation with readily recognizable tubular cell mitotic figures, indicating concurrent acute tubular injury. Electron microscopy showed diffuse podocyte foot process effacement, along with microvillous transformation, podocyte hypertrophy, and cytoplasmic vacuoles, suggesting podocyte injury. This cytoplasmic vacuolization was also observed in the tubular epithelial cells. In both cases, the injury factor appeared to target both podocytes and tubular cells.
Sweet's Syndrome: A Classical Presentation of a Rare Disease
Authors: Arash Mollaeian, Hadi Roudsari, Ebrahim Talebi
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: sweet’s syndrome, immunology, neutrophilic dermatoses
MeSH terms: Sweet Syndrome / diagnosis, Sweet Syndrome / physiopathology, Case Reports, Adrenal Cortex Hormones / therapeutic use, Adult, Female, Fever / etiology, Humans, Sweet Syndrome / drug therapy, Adrenal Cortex Hormones

Sweet's syndrome, also known as acute febrile neutrophilic dermatosis, is a rare disorder that typically presents with rapid appearance of tender skin lesions accompanied by fever and leukocytosis with neutrophilia. Its pathogenesis is not fully understood. The syndrome is generally classified into classical, malignancy-associated, and drug-induced categories, each of which has its specific characteristics. In this article, we present a case of classical Sweet's syndrome in a woman who presented with an acute viral illness.
Systemic Lupus Erythematosus With Isolated Psychiatric Symptoms and Antinuclear Antibody Detection in the Cerebrospinal Fluid
Authors: Eva M Lüngen, Viktoria Maier, Nils Venhoff, Ulrich Salzer, Rick Dersch, Benjamin Berger, Anne N Riering, Kathrin Nickel, Bernd L Fiebich, Patrick Süß, Simon J Maier, Karl Egger, Ludger Tebartz van Elst, Dominique Endres
Journal: Front Psychiatry (2019)
Keywords: neuropsychiatric systemic lupus erythematosus, obsessive-compulsive disorder (ocd), psychosis, schizophrenia, systemic lupus erythematosus
MeSH terms: Case Reports

Background: Organic psychiatric disorders can be caused by immunological disorders, such as autoimmune encephalitis or systemic lupus erythematosus (SLE). SLE can affect most organs, as well as the central nervous system (CNS). In this paper, we describe a patient with an isolated psychiatric syndrome in the context of SLE and discuss the role of antibody detection in the cerebrospinal fluid (CSF). Case presentation: The 22-year-old German male high school graduate presented with obsessive-compulsive and schizophreniform symptoms. He first experienced obsessive-compulsive symptoms at the age of 14. At the age of 19, his obsessive thoughts, hallucinations, diffuse anxiety, depressed mood, severe dizziness, and suicidal ideation became severe and did not respond to neuroleptic or antidepressant treatment. Due to increased antinuclear antibodies (ANAs) with anti-nucleosome specificity in serum and CSF, complement activation, multiple bilateral white matter lesions, and inflammatory CSF alterations, we classified the complex syndrome as an isolated psychiatric variant of SLE. Immunosuppressive treatment with two times high-dose steroids, methotrexate, and hydroxychloroquine led to a slow but convincing improvement. Conclusion: Some patients with psychiatric syndromes and increased ANA titers may suffer from psychiatric variants of SLE, even if the American College of Rheumatology criteria for SLE are not met. Whether the psychiatric symptoms in our patient represent a prodromal stage with the later manifestation of full-blown SLE or a subtype of SLE with isolated CNS involvement remains unclear. Regardless, early diagnosis and initiation of immunosuppressive treatment are essential steps in preventing further disease progression and organ damage. Intrathecal ANAs with extractable nuclear antigen differentiation may be a more sensitive marker of CNS involvement compared with serum analyses alone.
Closantel Retinal Toxicity: Case Report and Literature Review
Authors: Sepideh Ghods, Elias Khalili Pour, Hamid Riazi-Esfahani, Hooshang Faghihi, Bahman Inanloo
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

A 57-year-old shepherd was referred with a 2-week history of decreased visual acuity in both eyes. Optical coherence tomography (OCT) (Heidelberg Engineering GmbH, Heidelberg, Germany) revealed diffuse outer nuclear layer hyperreflectivity and indistinguishable external limiting membrane and ellipsoid zone. The patient announced to us that he took two 500 mg of closantel tablets (15.15 mg/kg) three days before the initiation of visual problems for sore throat as an antibiotic. Electroretinography displayed severely attenuated responses in both eyes. We decided to admit the patient with the presumed diagnosis of closantel retinal toxicity and treated him with intravenous methylprednisolone 1 g per day and intravenous erythropoietin 10000 IU twice a day, and reevaluation of the patient proved no change in his visual acuity on the third day of admission. Closantel is a veterinary drug with serious side effects in the human retina and central nervous system even in previously reported doses. Public awareness and appropriate drug labeling about its side effects could prevent accidental toxicity. OCT is a noninvasive and rapid diagnostic modality that should be done in suspected toxic retinopathy.
Spontaneous Intramural Oesophageal Haematoma in a Patient with Uncontrolled Hypertension: An Unusual Chest Pain Aetiology
Authors: Samantha Cooray, Dionysios Dellaportas, Clifford Caruana, Andrew R Davies
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Introduction. Spontaneous intramural oesophageal haematoma is a rare condition that usually occurs secondary to an acute or chronic coagulation disorder. The presenting complaint is often with retrosternal chest pain and most patients are initially investigated to exclude more common causes in the differential diagnosis, such as acute coronary syndromes. Severe life-threatening bleeding or perforation seldom, if ever, arises. Case Presentation. We present a case of spontaneous oesophageal haematoma which appears to have developed gradually in a 69-year-old female with uncontrolled hypertension and antiplatelet medication use. The diagnosis was made on computed tomography imaging and was further evaluated with upper gastrointestinal endoscopy. Management was conservative and a follow-up endoscopy two weeks later showed almost complete resolution of the lesion. Discussion. Spontaneous oesophageal haematomas are very rare and usually result in the separation of the mucosal layer from the underlying muscle, presenting with chest pain, haematemesis, and dysphagia. Usually the diagnosis is one of exclusion, based on computed tomography imaging and endoscopy. Conservative management is almost always successful.
Rhythmic Relating: Bidirectional Support for Social Timing in Autism Therapies
Authors: Stuart Daniel, Dawn Wimpory, Jonathan T Delafield-Butt, Stephen Malloch, Ulla Holck, Monika Geretsegger, Suzi Tortora, Nigel Osborne, Benjaman Schögler, Sabine Koch, Judit Elias-Masiques, Marie-Claire Howorth, Penelope Dunbar, Karrie Swan, Magali J Rochat, Robin Schlochtermeier, Katharine Forster, Pat Amos
Journal: Front Psychol (2022)
Keywords: communicative musicality, rhythmic relating, autism, movement, sensorimotor integration, social timing, synchrony, therapy

We propose Rhythmic Relating for autism: a system of supports for friends, therapists, parents, and educators; a system which aims to augment bidirectional communication and complement existing therapeutic approaches. We begin by summarizing the developmental significance of social timing and the social-motor-synchrony challenges observed in early autism. Meta-analyses conclude the early primacy of such challenges, yet cite the lack of focused therapies. We identify core relational parameters in support of social-motor-synchrony and systematize these using the communicative musicality constructs: pulse; quality; and narrative. Rhythmic Relating aims to augment the clarity, contiguity, and pulse-beat of spontaneous behavior by recruiting rhythmic supports (cues, accents, turbulence) and relatable vitality; facilitating the predictive flow and just-ahead-in-time planning needed for good-enough social timing. From here, we describe possibilities for playful therapeutic interaction, small-step co-regulation, and layered sensorimotor integration. Lastly, we include several clinical case examples demonstrating the use of Rhythmic Relating within four different therapeutic approaches (Dance Movement Therapy, Improvisational Music Therapy, Play Therapy, and Musical Interaction Therapy). These clinical case examples are introduced here and several more are included in the Supplementary Material (Examples of Rhythmic Relating in Practice). A suite of pilot intervention studies is proposed to assess the efficacy of combining Rhythmic Relating with different therapeutic approaches in playful work with individuals with autism. Further experimental hypotheses are outlined, designed to clarify the significance of certain key features of the Rhythmic Relating approach.
Multiple malignant transformations of an ovarian mature cystic teratoma
Authors: Kristen Cagino, Daniel Levitan, Nina Schatz-Siemers, Rasa Zarnegar, Eloise Chapman-Davis, Kevin Holcomb, Melissa Frey
Journal: Ecancermedicalscience (2020)
Keywords: carcinoid syndrome, malignant transformation, mature cystic teratoma, struma ovarii, strumal carcinoid
MeSH terms: Case Reports

Background:
Malignant transformation of mature cystic teratomas (MCTs) is a rare phenomenon. The most common histology of a malignant transformation is squamous cell carcinoma, and there are limited reports of multiple malignancies arising in a single MCT. Further data are necessary to guide management of these atypical cases.
Case:
We present the case of a 48-year-old with MCT containing a malignant papillary thyroid carcinoma (PTC) arising in the context of struma ovarii and a carcinoid tumour.
Conclusion:
Malignant transformations of MCTs are exceedingly rare with no guidelines on management. We use this case to demonstrate an approach for the workup and management of malignantly transformed MCTs.
Case report: BRAF A598-T599insV mutation as a potential resistance mechanism to alectinib in ALK-rearranged lung adenocarcinoma
Authors: Thomas Pasau, Els Wauters, Isabelle Wauters, Fabrice Duplaquet, Lionel Pirard, Claudia Pop-Stanciu, Nicky D'Haene, Michael Dupont, Thierry Vander Borght, Benoît Rondelet, Sebahat Ocak
Journal: Front Oncol (2022)
Keywords: alk rearrangement, braf a598-t599insv mutation, lung adenocarcinoma, non-small cell lung cancer, resistance to alectinib
MeSH terms: Case Reports

Anaplastic lymphoma kinase (ALK) tyrosine kinase inhibitors (TKIs) have improved the prognosis of advanced-stage non-small cell lung cancer (NSCLC) with ALK rearrangement, but resistance mechanisms limit their efficacy. We describe the case of a 63-year-old man with a stage cIVA ALK-rearranged lung adenocarcinoma who developed a BRAF A598-T599insV mutation as a potential resistance mechanism to alectinib, a second-generation ALK TKI. He was treated with an association of BRAF and MEK inhibitors but death occurred two months after treatment initiation in a context of tumor progression and toxicity. Based on this first report of BRAF A598-T599insV mutation occurring in lung cancer, we discuss resistance mechanisms to ALK TKIs, implications of BRAF mutation in NSCLC, and BRAF A598-T599insV mutation in other cancers.
Solitary Myofibroma of the Bladder Trigone in a 3-Month-Old Patient: First Case Report
Authors: Marco Pensabene, Fortunato Siracusa, Vito Rodolico, Giuseppe Li Voti, Elisa Zambaiti, Marcello Cimador
Journal: Case Rep Pediatr (2016)

Visceral solitary myofibromas are uncommon in childhood. We report a case of a solitary asymptomatic visceral myofibroma of the bladder trigone occurring in a 3-month-old boy. Once malignancies were ruled out by cystoscopy, radical excision was performed in order to avoid any potential impairment of bladder dynamic. Postoperative course was uneventful and patient was discharged on day 3 after surgery. After 36 months of follow-up, the patient is toilet-trained and remains well; bladder function is normal.
A Rare Case of a Primary Unilateral Low-Grade Paratesticular Leiomyosarcoma in a 2 Years Old Dog
Authors: Carolina Balao da Silva, Luis Gómez Gordo, Jesús María Cuesta Gerveno, Cristina Ortega-Ferrusola, Patricia Martín-Muñoz, Francisco Javier Duque Carrasco, Carlos Parejo, Fernando Peña Vega
Journal: Front Vet Sci (2019)
Keywords: dog, leiomyosarcoma, oncology, paratesticular, urogenital
MeSH terms: Case Reports

A 2 years old dog was brought to the clinic with complains of testicular enlargement. The tissue was diffusely affected as confirmed by ultrasonographic examination, being the right testicle atrophied and the right epididymis enlarged, with loss of echotexture and presence of several anechogenic areas. The situation required the excision of the referred testicle and epididymis. Final diagnose made by histopathological analysis was primary unilateral low-grade paratesticular leiomyosarcoma. Scarce bibliography is found on this matter, with several cases reported on human, and none in dog. This case report is therefore an important milestone on the area of small animal oncology directly related to the reproductive tissue.
Case Report: Alzheimer's Dementia Associated With Cerebrospinal Fluid Neurochondrin Autoantibodies
Authors: Niels Hansen, Berend Malchow, Bianca Teegen, Jens Wiltfang, Claudia Bartels
Journal: Front Neurol (2022)
Keywords: alzheimer's disease, autoimmunity, cerebrospinal fluid, dementia, neurochondrin autoantibody
MeSH terms: Case Reports

Background:
Neurochondrin autoimmunity is a rare disorder mainly associated with cerebellar and vestibular syndromes. Our report aims to enlarge its phenotypic spectrum to encompass major cognitive disorder with very late onset never before reported in conjunction with neurochondrin antibodies.
Methods:
We describe the case of an 85-year-old woman who presented in our memory clinic. Retrospective analysis of patient records included cerebrospinal fluid (CSF) analysis, magnetic resonance imaging (MRI), and neuropsychological testing using the CERAD-plus.
Results:
Because of her unknown onset of progressive cognitive dysfunction in conjunction with speech and language problems, we decided to take an extensive differential diagnostic approach including a search for neural autoantibodies potentially involved in cognitive impairment. Our patient presented serum and CSF neurochondrin autoantibodies. Further CSF analysis revealed elevated tau and ptau 181 protein as well as a reduced Aß42/40 ratio in CSF, thus matching a biomarker profile of Alzheimer's disease (AD). Neuropsychological tests revealed predominant and severe deficits in verbal and visual memory. Her MRI showed reduced parietal and cerebellar brain volume.
Discussion:
Taken together, this case reveals the novelty of a patient with a CSF-based and typical clinical and imaging profile of AD. She is also likely to have neurochondrin autoimmunity, as we detected neurochondrin autoantibodies in her CSF; we therefore diagnosed AD dementia associated with neurochondrin antibodies. Our case expands the spectrum of neurochondrin autoimmunity to disorders involving major cognitive disorder such as AD dementia. Furthermore, we speculate that neurochondrin autoimmunity might have triggered an acceleration of AD symptoms as its onset was reported only after a short 6-month interval via a synergistic or negatively additive hybrid mechanism of action between neurodegeneration and autoimmunity.
Kawasaki Disease With Combined Cholestatic Hepatitis and Mycoplasma pneumoniae Infection: A Case Report and Literature Review
Authors: Shen-Wen Huang, Sheng-Chieh Lin, Shih-Yen Chen, Kai-Sheng Hsieh
Journal: Front Pediatr (2022)
Keywords: kawasaki disease (kd), mycoplasma pneumoniae infection, abdominal pain, cholestatic hepatitis, jaundice
MeSH terms: Case Reports

Kawasaki disease (KD), also called mucocutaneous lymph node syndrome, is a febrile multisystem vasculitis mainly affecting children younger than 5 years. KD typically manifests as skin lesions and in the lymph nodes and oral and conjunctival mucosa. It may induce coronary artery abnormalities, such as aneurysms, but gastrointestinal and hepatobiliary involvement are not common. We reviewed 32 cases of patients with a diagnosis of KD with hepatobiliary involvement between 2000 and 2021 and present the case of a 4-year-old girl who received a diagnosis of KD with combined cholestatic hepatitis and Mycoplasma pneumoniae infection. In the 33 cases reviewed, in addition to the classical clinical findings of KD, the most common clinical presentations were jaundice and abdominal pain. Moreover, abnormal laboratory results indicating hyperbilirubinemia, cholestasis, and hepatitis, among other conditions, were noted. Abdominal ultrasonography revealed abnormal findings in more than half children with KD with hepatobiliary involvement. Furthermore, cardiac involvement was noted in a high proportion of the patients. In particular, we noted the case of a 4-year-old girl with a rare presentation of 3-day fever combined with abdominal pain and jaundice. Her levels of aspartate aminotransferase, alanine aminotransferase, total bilirubin, direct bilirubin, alkaline phosphatase, and γ-glutamyl transpeptidase were 489 (15-50) U/L, 253 (5-45) U/L, 4.3 (<1.5) mg/dl, 2.4 (<0.2) mg/dl, 337 (134-315) U/L, and 145 (5-32) U/L, respectively. These results were indicative of cholestatic hepatitis. Furthermore, her serological test results for mycoplasma infection were positive. KD was diagnosed because the patient had high fever for more than 5 days and presented with lymphadenopathy on the left side of neck, a polymorphic skin rash, redness of oral mucosa with strawberry tongue, and nonpurulent conjunctival congestion. After intravenous immunoglobulin injection (IVIG) and acetylsalicylic acid administration, the fever subsided rapidly and clinical manifestations, such as jaundice and abdominal pain, were mitigated. The laboratory parameters gradually returned to within normal ranges. Echocardiography revealed no aneurysm. In conclusion, KD with cholestatic hepatitis should be considered when pediatric patients present with fever combined with abdominal pain and jaundice. Early treatment with IVIG and aspirin is recommended and can effectively relieve cholestatic hepatitis.