OpenMed/multicare-articles huggingface dataset:
Severe refractory TAFRO syndrome requiring continuous renal replacement therapy complicated with Trichosporon asahii infection in the lungs and myocardial infarction: an autopsy case report and literature review
Authors: Arata Hibi, Ken Mizuguchi, Akiko Yoneyama, Takahisa Kasugai, Keisuke Kamiya, Chiharu Ito, Satoru Kominato, Toshiyuki Miura, Katsushi Koyama
Journal: Ren Replace Ther (2018)
Keywords: capillary leak syndrome, continuous renal replacement therapy, endothelial injury, hypercytokinemia, interleukin-6, multicentric castleman disease, renal failure, sepsis-related myocardial calcification, tafro syndrome, thrombotic microangiopathy
MeSH terms: Case Reports

Background:
TAFRO (thrombocytopenia, anasarca, fever, reticulin myelofibrosis/renal failure, and organomegaly) syndrome is a systemic inflammatory disorder and unique clinicopathological variant of idiopathic multicentric Castleman disease that was proposed in Japan. Prompt diagnosis is critical because TAFRO syndrome is a progressive and life threating disease. Some cases are refractory to immunosuppressive treatments. Renal impairment is frequently observed in patients with TAFRO syndrome, and some severe cases require hemodialysis. Histological evaluation is important to understand the pathophysiology of TAFRO syndrome. However, systemic histopathological evaluation through autopsy in TAFRO syndrome has been rarely reported previously.
Case presentation:
A 46-year-old Japanese man with chief complaints of fever and abdominal distension was diagnosed with TAFRO syndrome through imaging studies, laboratory findings, and pathological findings on cervical lymph node and bone marrow biopsies. Interleukin (IL)-6 and vascular endothelial growth factor (VEGF) levels were remarkably elevated in both blood and ascites. Methylprednisolone (mPSL) pulse therapy was initiated on day 10, followed by combination therapy with PSL and cyclosporine A. However, the amount of ascites did not respond to the treatment. The patient became anuric, and continuous renal replacement therapy was initiated from day 50. However, the patient suddenly experienced cardiac arrest associated with myocardial infarction (MI) on the same day. Although the emergent percutaneous coronary intervention was successfully performed, the patient died on day 52, despite intensive care. Autopsy was performed to ascertain the cause of MI and to identify the histopathological characteristics of TAFRO syndrome.
Conclusions:
Bacterial peritonitis, systemic cytomegalovirus infection, and Trichosporon asahii infection in the lungs were observed on autopsy. In addition, sepsis-related myocardial calcification was suspected. Management of infectious diseases is critical to reduce mortality in patients with TAFRO syndrome. Although the exact cause of MI could not be identified on autopsy, we considered embolization by fungal hyphae as a possible cause. Endothelial injury possibly caused by excessive secretion of IL-6 and VEGF contributed to renal impairment. Fibrotic changes in anterior mediastinal fat tissue could be a characteristic pathological finding in patients with TAFRO syndrome.
Case report: A successfully treated case of community-acquired urinary tract infection due to Klebsiella aerogenes in Bangladesh
Authors: Razib Mazumder, Arif Hussain, Bithika Bhadra, Jody Phelan, Susana Campino, Taane G Clark, Dinesh Mondal
Journal: Front Med (Lausanne) (2023)
Keywords: bangladesh, esbls (extended spectrum β-lactamases), klebsiella aerogenes, community-acquired urinary tract infection, extensive drug resistance (xdr), type 2 diabetes mellitus
MeSH terms: Case Reports

Klebsiella aerogenes, a nosocomial pathogen, is increasingly associated with extensive drug resistance and virulence profiles. It is responsible for high morbidity and mortality. This report describes the first successfully treated case of community-acquired urinary tract infection (UTI) caused by Klebsiella aerogenes in an elderly housewife with Type-2 diabetes (T2D) from Dhaka, Bangladesh. The patient was empirically treated with intravenous ceftriaxone (500 mg/8 h). However, she did not respond to the treatment. The urine culture and sensitivity tests, coupled with bacterial whole-genome sequencing (WGS) and analysis, revealed the bacteria to be K. aerogenes which was extensively drug-resistant but was susceptible to carbapenems and polymyxins. Based on these findings, meropenem (500 mg/8 h) was administered to the patient, who then responded to the treatment and recovered successfully without having a relapse. This case raises awareness of the importance of diagnosis of not-so-common etiological agents, correct identification of the pathogens, and targeted antibiotic therapy. In conclusion, correctly identifying etiological agents of UTI using WGS approaches that are otherwise difficult to diagnose could help improve the identification of infectious agents and improve the management of infectious diseases.
Small cell carcinoma of the uterine cervix in pregnancy: A case report and review of the literature
Authors: Qing Wang, Yi-Hong Liu, Li Xie, Wen-Jing Hu, Bao-Rui Liu
Journal: Oncol Lett (2015)
Keywords: cervix, neoadjustchemotherapy, pregnancy, radiotherapy, small cell carcinoma

The occurrence of cervical cancer during pregnancy is extremely rare, particularly small cell carcinoma. Small cell cervical carcinoma (SCCC) is a neuroendocrine tumor with a poor prognosis. This study presents the case of an 18-year-old female with stage IB2 SCCC complicated by pregnancy, who was treated with chemotherapy and radiotherapy. The patient was diagnosed shortly after giving birth, and is the youngest female case to be reported in the world. The patient was treated with cisplatin and etoposide chemotherapy and radiotherapy. Complete remission was achieved following neoadjuvant chemotherapy and radiotherapy, and the patient remains in clinical remission eight months following treatment. Cytological screening, colposcopy and if necessary, biopsy, and selective conization at 14-20 weeks should be considered in the patient evaluation.
Osteoid Osteoma of the Coracoid Process Presenting as Adhesive Capsulitis in a 10-Year-Old Male: A Case Report
Authors: Anthony Mancuso, Amy Singleton, Hadeel Abaza, Michael Albert, Jeffrey Mikutis
Journal: European J Pediatr Surg Rep (2022)
Keywords: adhesive capsulitis, benign bony lesion, coracoid process, osteoid osteoma, primary bone tumor
MeSH terms: Case Reports

A 10-year-old male presented with symptoms in his right shoulder indicative of adhesive capsulitis. Radiographic films did not demonstrate any osseous abnormalities. Magnetic resonance imaging demonstrated the presence of an eccentric lesion within the coracoid process consistent with an osteoid osteoma. Six months after surgical removal the patient is back to full activities. For the pediatric population, surgeons must always consider diagnoses that could alter a patient's growth or result in long-term disability. In particular, an atypical presentation of musculoskeletal disease in a pediatric patient presenting with a disease that typically is seen in the older population warrants further workup.
Autosomal dominant sleep-related hypermotor epilepsy associated with a novel mutation of KCNT1
Authors: Jinyu Lu, Gaohua Zhao, Dayao Lv, Lanxiao Cao, Guohua Zhao
Journal: Transl Neurosci (2022)
Keywords: kcnt1, autosomal dominant sleep-related hypermotor epilepsy, clinical features, mutation
MeSH terms: Case Reports

Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is characterized by severe sleep-related rigid hypermotor seizures. The pathogenic genes of ADSHE include genes encoding subunits of the neuronal nicotinic acetylcholine receptor, KCNT1, DEPDC5, NPRL2/3, CABP4, and CRH. Individuals with KCNT1-related ADSHE are more likely to develop seizures at a younger age, have cognitive comorbidity, and display psychiatric and behavioral problems. In this study, a 12-year-old Chinese girl was referred for genetic evaluation of grand mal seizures. She had paroxysmal convulsions of the limbs and loss of consciousness just after falling asleep without obvious triggers. A novel heterozygous missense mutation c.2797C > T (p.Arg933Cys) in exon 24 of the KCNT1 was identified in the proband by whole-exome sequencing and Sanger sequencing, and the clinical symptoms were compatible with ADSHE. The proband's father has been showing similar symptoms for more than 20 years and had the same site mutation. Her mother and sister were physically and genetically normal. The study revealed a novel variant in the KCNT1 and expanded the mutation spectrum for this clinical condition. Our results provide further evidence supporting a causative role in KCNT1 variants in ADSHE.
Vaping-Induced Lung Injury: A Case of Lipoid Pneumonia Associated with E-Cigarettes Containing Cannabis
Authors: Bryno Gay, Zachary Field, Sachin Patel, Rodrigo Murillo Alvarez, Wael Nasser, Mario Madruga, S J Carlan
Journal: Case Rep Pulmonol (2020)
MeSH terms: Case Reports

Electronic cigarette, or vaping product use-associated lung injury (EVALI), is a group of lung disorders associated with vaping and e-cigarette products that has previously been categorized as a diagnosis of exclusion and best described as an exogenous lipoid pneumonia or chemical pneumonitis. Here, we describe the onset of an exogenous cause of lipoid pneumonia in an otherwise healthy patient using cannabis-containing electronic cigarettes. We explore similarities in the clinical case, define a common clinical presentation with progression of disease, characteristic radiographic findings along with pathological diagnosis and management.
Case report of a laryngotracheal reconstruction with anterior and posterior costal cartilage graft and stent placement - Surgical technique
Authors: Nathan Montoya Albrecht, Samuel Ostrower
Journal: Int J Surg Case Rep (2019)
Keywords: anterior costal cartilage graft, case report, grade iii subglottic stenosis, grade iv subglottic stenosis, posterior costal cartilage graft

Objective:
The purpose of this report is to examine a grade III subglottic stenosis case with double-stage laryngotracheal reconstruction using a costal cartilage graft and to explore the relevant literature regarding these topics.
Context:
In this report, the authors examine a severe grade III subglottic stenosis pediatric case and its subsequent laryngotracheal reconstruction with costal cartilage graft. This case demonstrates a surgical intervention which has become infrequently utilized since neonatologists began using noninvasive positive pressure airway support rather than intubation; thus, the incidence of acquired subglottic stenosis is decreasing. Features of the case and its surgical correction are discussed in detail.
Case report summary:
The patient is a 3-year-old African-American female born prematurely at 30 weeks by emergent cesarean section complicated by placenta previa, twin gestation and absent end diastolic flow. The patient has a past medical history significant for apnea of prematurity, necrotizing enterocolitis, bronchopulmonary dysplasia, hyaline membrane disease, pneumonia, abnormal electroencephalogram, cardiac arrest due to respiratory disorder, parainfluenza infection, chronic respiratory failure, laryngomalacia and grade III subglottic stenosis. The patient's surgical history is significant for supraglottic laryngoplasty, tracheostomy placement, gastrostomy tube placement and laryngotracheal reconstruction with anterior and posterior costal cartilage graft and stent placement with subsequent stent removal. As of March 2019, the patient continues to have follow up laryngoscopy/bronchoscopy with dilation. Ultimately, the patient will maintain her own airway with tracheostomy tube removal.
Data sources and overall comparisons:
A PubMed literature review of subglottic stenosis and laryngotracheal reconstruction with costal cartilage graft was performed. Twenty sources were reviewed leading to greater understanding of the evidence supporting the laryngotracheal reconstruction with graft treatment modality.
Conclusion:
Optimal management and correction of subglottic stenosis is possible via laryngotracheal reconstruction with cartilage graft. The reconstruction procedure, first utilized in the 1970's, allows correction of severe (grades III and IV) subglottic stenosis. After healing is complete, the patient regains function of her own airway.
Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations
Authors: Mariasavina Severino, Andrea Accogli, Giorgio Gimelli, Andrea Rossi, Svetlana Kotzeva, Maja Di Rocco, Patrizia Ronchetto, Cristina Cuoco, Elisa Tassano
Journal: Mol Cytogenet (2015)
Keywords: 2p253 deletion, 2q373 deletion, array-cgh, brain mri, diffusion tensor imaging, ring chromosome 2
MeSH terms: Case Reports

Background:
Ring chromosome 2 is a rare constitutional abnormality that generally occurs de novo. About 14 cases have been described to date, but the vast majority of papers report exclusively conventional cytogenetic investigations and only two have been characterized by array-CGH.
Results:
Here we describe the clinical, neuroradiological, and molecular features of a 5-year-old boy harbouring a ring chromosome 2 presenting with severe growth failure, facial and bone dysmorphisms, microcephaly, and renal malformation. Brain MR with diffusion tensor imaging revealed simplified cortical gyration, pontine hypoplasia, and abnormally thick posterior corpus callosum, suggesting an underlying axonal guidance defect. Cytogenetic investigations showed a karyotype with a ring chromosome 2 and FISH analysis with subtelomeric probes revealed the absence of signals on both arms. These results were confirmed by array-CGH showing terminal deletions on 2p25.3 (~439 kb) and 2q37.3 (~3.4 Mb).
Conclusions:
Our report describes a new patient with a ring chromosome 2 completely characterised by array-CGH providing additional information useful not only to study genotype-phenotype correlation but also to validate the role of already reported candidate genes and to suggest novel ones which could improve our understanding of the clinical features associated with ring chromosome 2.
Proliferative Verrucous Leukoplakia of the Gingiva: An Early Lesion Refractory to Surgical Excision
Authors: Dhanushka Leuke Bandara, Primali Rukmal Jayasooriya, Ruwan Duminda Jayasinghe
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

This report describes a case of proliferative verrucous leukoplakia (PVL) of the gingiva with no discernible aetiology, which presented in a 36-year-old female. The initial nonscrapable gingival lesion was treated with CO2 laser ablation, and the histopathological evaluation was carried out. The presence of koilocytic cells in the superficial epithelium led to immunohistochemical investigations with p16 antibody, which showed strong nuclear positivity and slight cytoplasmic positivity in >50% of the cells with >25% confluency. However, it was not possible to confirm the presence of HPV infection with further investigations due to logistic reasons. The lesion recurred twice within a short time despite the surgical resection following the first recurrence. Thus, this paper presents a case of proliferative verrucous leukoplakia, which demonstrated a significant resistance to routine treatment protocols recommended in the management of such lesions.
Oleothorax: A Historic Chest Radiograph Finding
Authors: Margarida Pimentel Nunes, Inês Branco Carvalho, Isabel Araújo, Raquel Almeida
Journal: Cureus (2023)
Keywords: chest x ray, elderly, lung mass, mycobacterium tuberculosis complex, oleothorax, radiographic interpretation, tuberculosis
MeSH terms: Case Reports

Even though tuberculosis (TB) is an extremely old disease, proper effective treatment for the condition became available only around 1944, with the discovery of streptomycin's effect on Mycobacterium tuberculosis. Until then, surgical approaches had been among some of the treatments employed, which were dropped with the progressive development of antimycobacterial agents. We present a case of an 83-year-old woman, with a history of pulmonary tuberculosis (PT) at the age of 15 years, presenting with a seven-day history of cough, dark sputum, dyspnea, and pleuritic chest pain. She was submitted to a chest radiograph. The exam revealed a large oval calcified mass on the left apex, compatible with oleothorax. Oleothorax should be included in the differential diagnosis of large calcified thoracic masses in older patients.
Pulmonary Arterial Hypertension in Adult-Onset Still's Disease: Rapid Response to Anakinra
Authors: Marc Campos, Elena Schiopu
Journal: Case Rep Rheumatol (2012)

Adult-onset Still's disease (AOSD) is a rare inflammatory condition characterized by spiking quotidian fever, rash, chronic arthralgia, leukocytosis, and occasional pulmonary involvement such as pleural effusion and transient pulmonary infiltrates. Pulmonary arterial hypertension (PAH) is a rare pulmonary complication of AOSD, and we are aware of only 5 cases reported in the literature. We report the case of a 27-year-old woman of Middle Eastern descent, with a 7-year history of AOSD, who developed severe pulmonary arterial hypertension (PAH). After unsuccessful exposure to various immunosuppressive regimens, shortly following the initiation of anakinra, an interleukin-1 (IL-1) receptor antagonist, her disease became quiescent and the PAH resolved. With this case report, we hope to show that anakinra, either by virtue of controlling the overall inflammation in AOSD, or by direct effect on the pulmonary microangiopathy, can improve severe PAH.