OpenMed/multicare-articles huggingface dataset:
18F-FDG PET/CT revealed sporadic schwannomatosis involving the lumbar spinal canal and both lower limbs: a case report
Authors: Xiaotian Li, Xianwen Hu, Pan Wang, Jiong Cai
Journal: Front Med (Lausanne) (2024)
Keywords: 18f-fdg, pet/ct, neurofibromatosis, schwannoma, schwannomatosis
MeSH terms: Case Reports

Schwannomatosis is a rare autosomal dominant hereditary syndrome disease characterized by multiple schwannomas throughout the body, without bilateral vestibular schwannoma or dermal schwannoma. The most common location of schwannomatosis is the head and neck, as well as the limbs, while multiple schwannomas in the lumbosacral canal and lower extremities are relatively rare. In this study, we report a 79-year-old woman diagnosed with schwannomatosis. MRI and contrast-enhanced imaging revealed multiple schwannomas in both lower extremities. An 18F-FDG PET/CT examination revealed that in addition to multiple tumors with increased 18F-FDG uptake in both lower extremities, there was also an increased 18F-FDG uptake in a mass in the lumbosacral canal. These masses were confirmed to be schwannomas by pathology after surgery or biopsy. 18F-FDG PET/CT findings of schwannomas were correlated with MRI and pathological components. Antoni A area rich in tumor cells showed significant enhancement on contrast-enhanced T1WI, and PET/CT showed increased uptake of 18F-FDG in the corresponding area, while Antoni B region rich in mucus showed low enhancement on contrast-enhanced T1WI, accompanied by a mildly increased 18F-FDG uptake.
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker
Authors: Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, Wasantha Ranatunga, Earnest James Paul Daniel, Mario E Cruz Muñoz, Melania Abreu, Héctor Mora-Montes, Miao He, Eva Morava, Gildardo Zafra de la Rosa
Journal: Front Genet (2024)
Keywords: alg2, cdg (congenital disorder of glycosylation), biomarker, congenital myasthenic syndromes (cms), glycan
MeSH terms: Case Reports

This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in ALG2, which encodes an α1,3-mannosyltransferase (EC 2.4.1.132) involved in the early steps of N-glycosylation. To date, fourteen cases of ALG2-CDG have been documented worldwide. From birth, the child experienced perinatal asphyxia, muscular weakness, feeding difficulties linked to an absence of the sucking reflex, congenital hip dislocation, and hypotonia. Over time, additional complications emerged, such as inspiratory stridor, gastroesophageal reflux, low intake, recurrent seizures, respiratory infections, an inability to maintain the head upright, and a global developmental delay. Whole genome sequencing (WGS) revealed the presence of two ALG2 variants in compound heterozygosity: a novel variant c.1055_1056delinsTGA p.(Ser352Leufs*3) and a variant of uncertain significance (VUS) c.964C>A p.(Pro322Thr). Additional studies, including determination of carbohydrate-deficient transferrin (CDT) revealed a mild type I CDG pattern and the presence of an abnormal transferrin glycoform containing a linear heptasaccharide consisting of one sialic acid, one galactose, one N-acetyl-glucosamine, two mannoses and two N-acetylglucosamines (NeuAc-Gal-GlcNAc-Man2-GlcNAc2), ALG2-CDG diagnostic biomarker, confirming the pathogenicity of these variants.
Case report: Germline BRCA 2 mutation in primary peritoneal carcinoma: a rare malignancy
Authors: Yan-Ying Huang, Yue Zhang, Wen-Jun Xie, Zhao-Dong Li
Journal: Front Oncol (2024)
Keywords: brca 2, ca125, parp, epithelial ovarian tumor, primary peritoneal carcinoma
MeSH terms: Case Reports

Background:
Primary peritoneal carcinoma (PPC) is a rare malignancy. Clinically, its histological morphology resembles that of epithelial ovarian tumors (EOC), often leading to misdiagnosis. Diagnosis and treatment of PPC are time-sensitive because of the rapidly progressive nature of the disease.
Case report:
Herein, we report the case of a 54-year-old woman who was initially diagnosed with ovarian cancer; however, extensive workup showed evidence of Müllerian PPC origin. Furthermore, the patient harbored a targetable BRCA mutation.
Conclusion:
The patient was treated with the BRCA-targeting agents and had a good prognosis after surgery.
Atypical Papillary Dysplasia of the Bladder Neck
Authors: Nikit Venishetty, Meesha Trivedi, Jeffrey Annabi, Angelica Padilla, Hani Annabi
Journal: Cureus (2024)
Keywords: atypical dysplastic lesions, bladder cancer, dysplasia, papillary dysplasia, transurethral resection of bladder tumor (turbt)
MeSH terms: Case Reports

As the fourth most frequent disease in men, bladder cancer has a significant financial impact on healthcare. Because atypical dysplasia and papillary forms in bladder cancer are uncommon, there is a dearth of information on them. This study attempts to fill that gap. In the case study that is being presented, a 65-year-old man with a history of prostate cancer was admitted due to unusual urine cytology results that showed bladder papillary atypia. A distinct lesion on the bladder's dome that resembled a raspberry color was discovered by cystoscopy and transurethral resection of the bladder tumor (TURBT), which led to numerous biopsies and resections. Pathology demonstrated a significant urothelial proliferation. The study highlights the variety of morphologies found in atypical dysplastic lesions and the possibility that these lesions could develop into cancer. The significance of identifying atypical dysplastic lesions is emphasized in the study's conclusion, notably in patients with a history of prostate cancer, and highlights the need for further investigation in this domain.
Rare Combined Congenital Pulmonary and Cardiovascular Malformations Revealed by Acute Hemoptysis
Authors: Dima Siblani, Ghassan Abi Chedid, Samir Challita, Sylvana El Zoghbi, Béatrice Le Bon Chami
Journal: Case Rep Pulmonol (2024)
MeSH terms: Case Reports

Background:
Lung sequestration is a subtype of congenital lung malformations; it is infrequently diagnosed in adults and is a rare cause of hemoptysis. The typical management of symptomatic lung sequestration is usually surgical, though intra-arterial embolization is becoming an acceptable alternative. Case Presentation. We report a case of a 36-year-old female patient who presented for an acute onset of hemoptysis. CT chest showed an intralobar sequestration of the right lower lobe lung segment. In addition to the sequestration, the chest imaging also revealed a number of associated abnormalities including double superior vena cava communicating through a bridge, absence of brachiocephalic venous trunk, cardiac dextroposition, and agenesis of the right middle lobe. Outcome and Discussion. The transarterial embolization was selected for being mini-invasive and effective. It successfully controlled the bleed and led to complete regression of the sequestered lung on the follow-up CT chest several months later.
Conclusion:
Successful management and complete regression are possible with mini-invasive intra-arterial embolization of lung sequestration. Although it is not uncommon to have associated congenital cardiopulmonary abnormalities with lung sequestration, however the exceptional abnormalities described in this case have never been reported before.
Cardiac computed tomography in infective endocarditis: "bridging the detection gap"
Authors: Natalie Montarello, Gabriel Bioh, Calum Byrne, Imtiaz Hassan, Vitaliy Androshchuk, Camelia Demetrescu, Sze Mun Mak, Ronak Rajani
Journal: Front Cardiovasc Med (2024)
Keywords: duke criteria, cardiac computed tomography (ct) imaging, infective endocarditis, pseudoaneursym, vegetations
MeSH terms: Review

Infective Endocarditis (IE) remains a significant health challenge. Despite an increasing awareness, mortality is high and has remained largely unchanged over recent decades. Early diagnosis of IE is imperative and to assist clinicians several diagnostic criteria have been proposed. The best known are the Duke criteria. Originally published in 1994, these criteria have undergone significant modifications. This manuscript provides a timeline of the successive changes that have been made over the last 30 years. Changes which to a large degree have reflected both the evolving epidemiology of IE and the proliferation and increasing availability of advanced multi-modality imaging. Importantly, many of these changes now form part of societal guidelines for the diagnosis of IE. To provide validation for the incorporation of cardiac computed tomography (CT) in current guidelines, the manuscript demonstrates a spectrum of pictorial case studies that re-enforce the utility and growing importance of early cardiac CT in the diagnosis and treatment of suspected IE.
Case report: Fatal neonatal sepsis associated with Escherichia fergusonii infection in a common bottlenose dolphin (Tursiops truncatus)
Authors: Su-Min Baek, Seoung-Woo Lee, Tae-Un Kim, Ji Hyung Kim, Young-Jin Lee, Jae-Hyuk Yim, Woo Jun Kim, Seong-Kyoon Choi, Jee Eun Han, Kyu-Shik Jeong, Jin-Kyu Park
Journal: Front Vet Sci (2023)
Keywords: escherichia fergusonii, cetaceans, dolphin, neonate, sepsis
MeSH terms: Case Reports

A 25-day-old male common bottlenose dolphin (Tursiops truncatus) died suddenly while swimming at a dolphinarium. The gross examination revealed ulceration on the dorsal and pectoral fins and rostrum. Severe congestion, hemorrhage, and edema were observed in the gastrointestinal tract, liver, mesenteric lymph nodes, lungs, and kidneys. Fibrinosuppurative arthritis of the atlantooccipital joint and extension of fibrin into the spinal canal caused compression of the spinal cord. Histopathological examination revealed tracheitis, fibrinosuppurative bronchopneumonia and enteritis. In the central nervous system, meningeal vessel congestion in the brain, and intraparenchymal hemorrhages with neurodegeneration were observed in the spinal cord. Based on the histopathological findings, representative samples, including lung, liver, mesenteric lymph node, blood obtained from the jugular vein, and fluid sample of the ascites, were inoculated on tryptic soy agar and blood agar for routine bacterial isolation. Each isolated bacterial colony was streaked aseptically onto tryptic soy agar and blood agar for pure culture. After then, polymerase chain reaction (PCR) was performed for further identification of pathogenic microorganisms. PCR identified Escherichia fergusonii, Shewanella haliotis, Enterococcus faecalis, and Staphylococcus schleiferi. E. fergusonii was considered the primary etiologic agent in this case since it was the only species identified in all representative samples. The cause of death in this animal was E. fergusonii sepsis. To the best of our knowledge, this is the first case of neonatal sepsis associated with E. fergusonii infection in a dolphin, and suggests E. fergusonii as an opportunistic pathogen associated with sepsis in dolphins.
Case report: First case of fungemia caused by Papiliotrema laurentii in a patient with SARS-CoV-2 infection
Authors: Regielly Caroline Raimundo Cognialli, Gabriella Felber Fratucci, Bruno Hassunuma Carneiro, Karyna Leal Antonio, Morgana Ferreira Voidaleski, Larissa Molina Favarello, Vania Aparecida Vicente, Flávio Queiroz-Telles
Journal: Rev Soc Bras Med Trop (2024)
MeSH terms: Basidiomycota, COVID-19 / complications, Cryptococcosis / microbiology, Cryptococcus, Fungemia / complications, Fungemia / diagnosis, Fungemia / microbiology, Case Reports, Humans, SARS-CoV-2, Papiliotrema laurentii

Previously considered saprobe and non-pathogenic, the fungus Papiliotrema laurentii (formerly known as Cryptococcus laurentii), is rarely associated with human infection. Nevertheless, there has been an increase in reported infections by non-neoformans cryptococci. After a literature search on the Cochrane Library, LILACS, SciELO, MEDLINE, PubMed, and PMC (PubMed Central) databases, we conclude that this is the first case report of fungemia and probable meningitis caused by Papiliotrema laurentii in a previously immunocompetent host with associated COVID-19.
Delayed Plasmodium falciparum Malaria in Pregnant Patient with Sickle Cell Trait 11 Years after Exposure, Oregon, USA
Authors: Wendi Drummond, Kathleen Rees, Stephen Ladd-Wilson, Kimberly E Mace, Douglas Blackall, Melissa Sutton
Journal: Emerg Infect Dis (2024)
Keywords: anopheles spp, oregon, plasmodium falciparum, united states, malaria, mosquitoes, parasites, pregnancy, pregnant patient, sickle cell trait
MeSH terms: Emigrants and Immigrants, Malaria, Falciparum / diagnosis, Sickle Cell Trait / complications, Case Reports, Emigration and Immigration, Female, Humans, Oregon, Pregnancy

Delayed Plasmodium falciparum malaria in immigrants from disease-endemic countries is rare. Such cases pose a challenge for public health because mosquitoborne transmission must be rigorously investigated. We report a case of delayed P. falciparum malaria in a pregnant woman with sickle cell trait 11 years after immigration to the United States.
Case report: Usefulness of angioscopy in determining antiplatelet drug reduction after carotid artery stenting
Authors: Kenji Fukutome, Mikio Shiba, Shuta Aketa, Takaaki Mitsui, Yuki Shiraishi, Hiromichi Hayami, Yasutaka Murakami, Ryuta Matsuoka, Rinsei Tei, Yasushi Shin, Yasushi Motoyama
Journal: Front Neurol (2023)
Keywords: angiography, angioscopy, carotid artery stenting, dual antiplatelet therapy, neointima
MeSH terms: Case Reports

We report a case in which neointima was confirmed by angioscopy and antiplatelet drug administration was reduced 2 months after carotid artery stenting (CAS). A patient in their 80s was scheduled to undergo resection for renal cancer; however, he also had right cervical internal carotid artery stenosis. Because this was a risk for general anesthesia, CAS was performed after first starting dual antiplatelet therapy. Urologically, early reduction of antiplatelet drugs was necessary for a nephrectomy. Although no obvious neointima could be identified on ultrasound 2 months after CAS, thin neointima was observed using angioscopy. Based on the above results, we reduced the antiplatelet drug administration, and then the nephrectomy was performed. Ultimately, no cerebral infarction occurred in the perioperative or postoperative periods. Angioscopy allows for visual confirmation of thin neointima. If sufficient neointima can be confirmed, antiplatelet drug reduction can be performed more safely and reliably.
European survey on neurosurgical management of primary central nervous system lymphomas and preoperative corticosteroid therapy
Authors: Florian Scheichel, Branko Popadic, Daniel Pinggera, Dariusz J Jaskolski, Vincent Lubrano, Nicolas Foroglou, David Netuka, Bogdan Iliescu, Laszlo Novak, Camillo Sherif, Franz Marhold, Christian F Freyschlag
Journal: Brain Spine (2023)
Keywords: corticosteroid therapy, primary central nervous system lymphoma, survey

Introduction:
Preoperative corticosteroid therapy (CST) is common in primary central nervous system lymphoma (PCNSL) and may complicate histopathological diagnosis. There is an ongoing debate on the best management after preoperative CST.
Research question:
We aimed to survey how different European neurosurgical units treat PCNSL patients after preoperative CST.
Methods:
An English-language survey consisting of 21 questions addressing the management of patients with suspected PCNSL and preoperative CST was sent to European hospitals. The survey also included three clinical cases to assess the decision-making process in a clinical setting.
Results:
The survey was completed by 74 European hospitals. There was no clear consensus on how to treat a patient with PCNSL after CST. Accordingly, 24.3% responded that they would generally defer surgery regardless of a possible radiological response, 47.3% would defer surgery only if there is regression in preoperative MRI and the remaining 28.4% would defer surgery only if the tumor had completely vanished. Furthermore, there were distinct discrepancies in responses of neurosurgical units regarding their general management approach and their case-based decision in the three example cases. The results of our survey also showed regional differences and differences in treatment decisions between high-, intermediate- and low-volume centers.
Discussion and conclusion:
There was no clear consensus on how to treat patients with suspected PCNSL and preoperative CST. Furthermore, most centers also showed inconsistencies in their responses regarding their general approach as well as individual patient treatment. More high-quality evidence-based recommendations are needed to improve consensus and thus patient care.
Growth rate per year of a soft tissue recurrent ameloblastoma
Authors: Roberta Rayra Martins Chaves, Wagner Henriques Castro, Ricardo Santiago Gomez
Journal: Clin Case Rep (2024)
Keywords: ameloblastoma, biological behavior, growth, odontogenic tumors
MeSH terms: Case Reports

Clinical key message:
We present a case of recurring ameloblastoma in soft tissue, for which we have estimated the growth rate of the lesion. This information could help clinicians to establish follow-up protocols for the early diagnosis of recurrent ameloblastomas.
Abstract:
In the present paper, we present a case of recurring ameloblastoma in soft tissue, for which we have estimated the growth rate of the lesion. The area of the whole resected specimen was measured using the ImageJ guide for complex object area. After dividing the area of the recurrent tumor by the number of years during the follow-up, we found that the lesion growth rate was 5.3 cm2 per year. Although further studies are still necessary in the literature to assess the growth rate of ameloblastoma, the present report shows a different methodology to estimate it. This information could help clinicians to establish follow-up protocols for the early diagnosis of recurrent ameloblastomas.
"Dying alone and being eaten": dog scavenging on the remains of an elderly animal hoarder-a case report
Authors: Louise Bach Kmetiuk, Paulo César Maiorka, Alan M Beck, Alexander Welker Biondo
Journal: Front Vet Sci (2023)
Keywords: one health, animal hoarding, forensic veterinary medicine, fresh human-meat feeding, hoarding behavior

Animal hoarding and human consumption by dogs have been important but often understudied aspects of the human-animal bond that can be addressed within a One Health framework. No scientific report has focused on dog scavenging on animal hoarders to date, despite isolated reports of dog scavenging on human remains, mostly due to starvation. The phenomenon has been approached as a confounding factor for human forensics. In 2014, the Animal Protection Department of Curitiba City was called to rescue and handle ten small dogs which had scavenged for a week on the human remains of their elderly owner, a potential animal hoarder. At inspection, three dead dogs in early putrefaction were also found in the household. Human autopsy revealed body putrefaction and lack of soft organs. Along with the dental arch, DNA testing was performed on the remains for official deceased identification. Due to the potential public health risks of aggression toward frail human beings and for the control of zoonotic diseases, all ten dogs were euthanized. Subsequent investigations by the crime scene police, homicide police, and autopsy services were unable to establish or rule out natural death, criminal or suicidal poisoning, zoonotic disease (rabies), fatal dog attack, or fatal accidental trauma. A general protocol has been proposed for future approaches to dog scavenging and suspicious killing of animal hoarders, as well an assessment for the potential adoption or euthanasia of animals owned by hoarders in these circumstances.
Sinus arrest in a p.Arg160X-DSP-positive patient without evidence of desmoplakin-mediated cardiomyopathy: a case report
Authors: Nicholas Y Tan, John R Giudicessi, Jason R Harvey, Samuel J Asirvatham, Konstantinos C Siontis
Journal: Front Cardiovasc Med (2023)
Keywords: arrhythmogenic cardiomyopathy, desmoplakin, sinus arrest, sinus node dysfunction, syncope
MeSH terms: Case Reports

Background:
Pathogenic/Likely pathogenic variants in DSP-encoded desmoplakin are strongly associated with arrhythmogenic cardiomyopathy (ACM). However, their contribution towards sinus node dysfunction has not been well-delineated.
Case summary:
A 74-year-old man with a pathogenic variant of DSP-encoded desmoplakin (c.478C >T; p.Arg160X) but no evidence of ACM presented with one episode of syncope in the setting of a gastrointestinal illness. Workup including echocardiography, cardiac magnetic resonance imaging, and Holter monitor did not show evidence of ACM or significant arrhythmias. One month later, he experienced several closely-spaced episodes of syncope associated with long sinus pauses and sinus arrest documented on telemetry. He underwent urgent dual chamber pacemaker implantation, during which a ventricular programmed stimulation study was performed and was negative for sustained ventricular arrhythmias. His syncopal episodes resolved and he had no recurrent events on three-month follow-up.
Discussion:
As highlighted here, DSP-encoded desmoplakin pathogenic/Likely pathogenic variants may contribute to isolated sinus node dysfunction. This clinical link should be further explored in larger studies involving patients with DSP variants.
Effectiveness of baricitinib in acquired reactive perforating collagenosis: a case report
Authors: Jianfeng Zheng, Yangfeng Ding, Yuanyuan Chen, Yuling Shi, Yunlu Gao
Journal: Front Immunol (2024)
Keywords: th2-type inflammation, acquired reactive perforating collagenosis, baricitinib, case report, diabetes
MeSH terms: Azetidines / adverse effects, Azetidines / therapeutic use, Collagen Diseases / drug therapy, Purines / adverse effects, Purines / therapeutic use, Pyrazoles / adverse effects, Pyrazoles / therapeutic use, Sulfonamides / therapeutic use, Case Reports, Aged, 80 and over, Female, Humans, Skin / drug effects, Skin / pathology, Treatment Outcome, baricitinib, Azetidines, Sulfonamides, Pyrazoles, Purines

Background:
Acquired reactive perforating collagenosis (ARPC) poses a clinical challenge with an unclear pathogenesis. This disease has been frequently proven resistant to immunosuppressive treatments, significantly affecting the quality of life of patients. In this report, we highlight the efficacy of baricitinib as a viable option for maintenance therapy in ARPC.
Case summary:
An 81-year-old woman presented to our hospital with recurrent pruritus and cup-like ulcerated lesions on her trunk and limbs persisting for 1 year. She exhibited limited response to oral antihistamines and topical steroids. Past medical history revealed a prolonged history of coronary heart disease and type 2 diabetes spanning several years to decades. Histopathological examination revealed cup-shaped depressions filled with necrotic inflammatory debris. In the dermis, a mixed inflammatory infiltrate composed of lymphocytes and histiocytes was observed. Van Gieson staining indicated the elimination of fibrous tissue extending from the dermis into the epidermis. Consequently, a diagnosis of ARPC was established. Due to the inadequate response to conventional treatments and the severe itching, we initiated baricitinib therapy for ARPC, resulting in gradual symptom improvement. Follow-up assessments showed no adverse reactions and normal laboratory findings.
Conclusion:
The case report suggests that baricitinib might offer significant therapeutic benefits for ARPC.