OpenMed/multicare-articles huggingface dataset:
Obstructive Sleep Apnea with Paradoxical Vocal Cord Movement in Children during Sleep Endoscopy: Case Series
Authors: Maxwell Newby, Sarah Callaham, Michele Carr
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Objective:
To describe a series of pediatric cases of obstructive sleep apnea (OSA) with paradoxical vocal cord movement noted on drug-induced sleep endoscopy (DISE).
Materials and methods:
Case series and chart review of children who had undergone DISE for OSA that showed PVCM.
Results:
Three cases where paradoxical vocal cord motion (PVCM) was noted during DISE are described. Two had an enlarged adenoid, and one had no other site of obstruction. Two were treated with adenoidectomy and antireflux medications. One received proton pump inhibitors alone. In all 3 cases, OSA symptoms resolved.
Conclusion:
This case series of documented obstructive sleep apnea related to paradoxical vocal cord movement suggests that this entity occurs during sleep with airway obstruction. Further clarification of etiology of PVCM during OSA and its management is needed.
Case report: Eculizumab plus obinutuzumab induction in a deceased donor kidney transplant recipient with DEAP-HUS
Authors: Evaldo Favi, Paolo Molinari, Carlo Alfieri, Giuseppe Castellano, Mariano Ferraresso, Donata Cresseri
Journal: Front Immunol (2022)
Keywords: cfhr1/cfhr3 gene mutation, deap-hus, anti-complement factor h antibody, atypical hemolytic uremic syndrome, case report, eculizumab, kidney transplant, obinutuzumab
MeSH terms: Atypical Hemolytic Uremic Syndrome / genetics, Kidney Transplantation / adverse effects, Case Reports, Female, Homozygote, Humans, Middle Aged, Sequence Deletion, obinutuzumab, eculizumab

The wide-spread use of the anti-complement component 5 monoclonal antibody (moAb) eculizumab has greatly reduced the incidence of relapsing atypical hemolytic uremic syndrome (aHUS) after kidney transplantation (KT). However, the optimal management of aHUS transplant candidates with anti-Complement Factor H (CFH) antibodies remains debated. In these patients, the benefits of chronic eculizumab administration should be weighed against the risk of fatal infections, repeated hospital admissions, and excessive costs. We report the case of a 45-year-old female patient with CFHR1/CFHR3 homozygous deletion-associated aHUS who underwent deceased-donor KT despite persistently elevated anti-CFH antibody titers. As induction and aHUS prophylaxis, she received a combination of eculizumab and obinutuzumab, a humanized type 2 anti-CD20 moAb. The post-operative course was uneventful. After 1-year of follow-up, she is doing well with excellent allograft function, undetectable anti-CFH antibodies, sustained B-cell depletion, and no signs of aHUS activity. A brief review summarizing current literature on the topic is also included. Although anecdotal, our experience suggests that peri-operative obinutuzumab administration can block anti-CFH antibodies production safely and effectively, thus ensuring long-lasting protection from post-transplant aHUS relapse, at a reasonable cost. For the first time, we have demonstrated in vivo that obinutuzumab B-cell depleting properties are not significantly affected by eculizumab-induced complement inhibition.
Molecular tools in understanding the evolution of Vibrio cholerae
Authors: Md Habibur Rahaman, Tarequl Islam, Rita R Colwell, Munirul Alam
Journal: Front Microbiol (2015)
Keywords: mlst, mlva, pfge, v cholerae, cholera, molecular fingerprinting, whole genome sequencing
MeSH terms: Review

Vibrio cholerae, the etiological agent of cholera, has been a scourge for centuries. Cholera remains a serious health threat for developing countries and has been responsible for millions of deaths globally over the past 200 years. Identification of V. cholerae has been accomplished using a variety of methods, ranging from phenotypic strategies to DNA based molecular typing and currently whole genomic approaches. This array of methods has been adopted in epidemiological investigations, either singly or in the aggregate, and more recently for evolutionary analyses of V. cholerae. Because the new technologies have been developed at an ever increasing pace, this review of the range of fingerprinting strategies, their relative advantages and limitations, and cholera case studies was undertaken. The task was challenging, considering the vast amount of the information available. To assist the study, key references representative of several areas of research are provided with the intent to provide readers with a comprehensive view of recent advances in the molecular epidemiology of V. cholerae. Suggestions for ways to obviate many of the current limitations of typing techniques are also provided. In summary, a comparative report has been prepared that includes the range from traditional typing to whole genomic strategies.
Long-Term Traumatic and Asymptomatic Aorto-Right Atrial Fistula
Authors: Sandro Gonçalves de Lima, Andréa Bezerra de Melo da Silveira Lordsleem, Kaique Leal Campos, Juliana Guedes Silva, Marcelo Antônio Oliveira Santos, Brivaldo Markman Filho
Journal: Braz J Cardiovasc Surg (2019)
MeSH terms: Acute Coronary Syndrome / diagnostic imaging, Aortic Diseases / diagnostic imaging, Arterio-Arterial Fistula / diagnostic imaging, Case Reports, Video-Audio Media, Acute Coronary Syndrome / etiology, Acute Coronary Syndrome / surgery, Aged, Aortic Diseases / etiology, Aortic Diseases / surgery, Aortography / methods, Arterio-Arterial Fistula / etiology, Arterio-Arterial Fistula / surgery, Cineangiography / methods, Coronary Angiography / methods, Echocardiography / methods, Electrocardiography, Heart Atria / diagnostic imaging, Heart Atria / injuries, Humans, Male, Wounds, Stab / complications

Aorto-atrial fistulas due to cardiac trauma are rare, and survivors require immediate surgical correction. Here, we report a case of an aorto-right atrial fistula due to penetrating trauma after a 16-year evolution, which developed symptoms of acute coronary syndrome and was treated with myocardial revascularization and correction of the aorto-cameral fistula.
Huge polypoid endometriosis: report of a case and review of the literature
Authors: Akiko Yamamoto, Tomoka Usami, Eiji Kondo, Kazuyoshi Kato, Teiichi Motoyama
Journal: Int Cancer Conf J (2015)
Keywords: adenosarcoma, decidual change, polypoid endometriosis, uterine serosa
MeSH terms: Case Reports

'Polypoid endometriosis' is a rare variant of endometriosis. We describe a case of an extremely large polypoid endometriosis mimicking a malignant tumor. A 37-year-old nulliparous woman was referred due to the rapid growth of an endometriotic cyst of the ovary and a high serum CA125 level. MRI revealed solid components in the pelvic mass. These preoperative clinical data were compatible with an ovarian carcinoma. A frozen section of the tumor biopsy showed as if an adenosarcoma, but finally the diagnosis of polypoid endometriosis with decidual change was made on permanent section. Polypoid endometriosis is a part of the differential diagnosis for malignant tumors in women with endometriosis, and we should consider carefully decision making for treatment.
Emergency laparoscopic approach without sufficient preoperative decompression for intersigmoid hernia: A case report
Authors: Kyota Tatsuta, Shinichiro Miyazaki, Yoshiro Nishiwaki
Journal: Int J Surg Case Rep (2019)
Keywords: emergency surgery, intersigmoid hernia, laparoscopy

Introduction:
In acute care surgery, an increasing number of patients operatively treated for small bowel obstruction undergo laparoscopic procedures. However, intersigmoid hernia is a rare condition. In some reports, surgeons have successfully operated on patients with an intersigmoid hernia via a laparoscopic approach. The laparoscopic approach has the advantage of facilitating simultaneous diagnosis and surgical intervention for intersigmoid hernias. In the laparoscopic approach, sufficient decompression of the small bowel is preoperatively performed in most cases.
Presentation of case:
We encountered a patient with an intersigmoid hernia who underwent an emergency laparoscopic approach without sufficient decompression. Because sufficient decompression of the small bowel was not preoperatively performed, it was difficult to establish a working space and visualize the site of obstruction; however, we performed the laparoscopic approach safely, and diagnosis and surgical intervention were possible. Moreover, the postoperative course was uneventful.
Discussion:
We successfully performed an emergency surgery using a laparoscopic approach for an intersigmoid hernia without sufficient decompression. The success of the procedure is attributable to the disease-specific surgical strategy, surgical technique, and the recent technological advances in multidetector-row computed tomography.
Conclusion:
We believe that careful preoperative diagnosis and strategy can lead to a good outcome and that the significance of emergency laparoscopic approach without sufficient decompression will keep increasing.
Progressive Heart Failure and Death as the Initial Manifestation of NK/T-Cell Lymphoma: A Case Report and Literature Review
Authors: Ziyu Zhang, Shuai Wang, Qingchun Liang, Daoquan Peng
Journal: Front Cardiovasc Med (2021)
Keywords: nk/t-cell lymphoma, cytokine strom, heart failure, inflammation, myocarditis
MeSH terms: Case Reports

Natural killer/T-cell (NK/T-cell) lymphoma is a rare-type non-Hodgkin lymphoma derived from NK cells or cytotoxic T cells. Here, we present a case of a 40-year-old woman who experienced quick-developed global heart failure and then was diagnosed with NK/T-cell lymphoma through lymphoid biopsy. Neither transthoracic echocardiography nor any radiological images detected a mass in her heart or pericardium. Elevated plasma troponin level and diffused patchy areas of gadolinium late enhancement on cardiac magnetic resonance were compatible with myocarditis. Considering the persistently elevated cytokine level, systemic inflammation symptoms, acute respiratory distress syndrome, and cardiac dysfunction, a cytokine storm secondary to NK/T-cell lymphoma was considered. Due to the refractory malignant arrhythmia, the patient died soon after being admitted to our hospital.
Creutzfeldt-Jakob Disease Presenting as Expressive Aphasia and Nonconvulsive Status Epilepticus
Authors: Hafiz B Mahboob, Kazi H Kaokaf, Jeremy M Gonda
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

Creutzfeldt-Jakob disease (CJD), the most common form of human prion diseases, is a fatal condition with a mortality rate reaching 85% within one year of clinical presentation. CJD is characterized by rapidly progressive neurological deterioration in combination with typical electroencephalography (EEG) and magnetic resonance imaging (MRI) findings and positive cerebrospinal spinal fluid (CSF) analysis for 14-3-3 proteins. Unfortunately, CJD can have atypical clinical and radiological presentation in approximately 10% of cases, thus making the diagnosis often challenging. We report a rare clinical presentation of sporadic CJD (sCJD) with combination of both expressive aphasia and nonconvulsive status epilepticus. This patient presented with slurred speech, confusion, myoclonus, headaches, and vertigo and succumbed to his disease within ten weeks of initial onset of his symptoms. He had a normal initial diagnostic workup, but subsequent workup initiated due to persistent clinical deterioration revealed CJD with typical MRI, EEG, and CSF findings. Other causes of rapidly progressive dementia and encephalopathy were ruled out. Though a rare condition, we recommend consideration of CJD on patients with expressive aphasia, progressive unexplained neurocognitive decline, and refractory epileptiform activity seen on EEG. Frequent reimaging (MRI, video EEGs) and CSF examination might help diagnose this fatal condition earlier.
Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy
Authors: Zeyuan Liu, He Wang, Xiaoli He, Dan Tao, Li Li
Journal: Open Life Sci (2023)
Keywords: rpgrip1, pathogenic variants, pigmented paravenous retinochoroidal atrophy, whole-exome sequencing
MeSH terms: Case Reports

Little is known about the genetic background of pigmented paravenous retinochoroidal atrophy (PPRCA) due to rarity of patients. In this study, we identified two pathogenic variants in RPGRIP1 in a 2-year-old boy with PPRCA screened by whole-exome sequencing (WES). The patient presented to our department with photophobia for 17 months, and then he underwent fundus photography and fluorescein fundus angiography. Genomic DNA was extracted from peripheral blood of the proband and the parents. Trio-WES strategy was utilized to identify the causal variants from the proband and the parents, followed by validation based on Sanger sequencing. The patient was finally diagnosed with PPRCA after differential diagnosis. Two heterozygous pathogenic variants were detected by WES according to the American college of medical genetics and genomics guidelines, including NM_020366.4: c.2592T > G: p.Y864* and NM_020366.4: c.154C > T: p.R52* in RPGRIP1 located in exon 17 and exon 3, leading to termination codon, respectively. This is the first study reporting pathogenic variants within RPGRIP1 as causal for PPRCA.
Disseminated Infection Caused by Eggerthella lenta in a Previously Healthy Young Man: A Case Report
Authors: Ahmad Salameh, Stephen A Klotz, Tirdad T Zangeneh
Journal: Case Rep Infect Dis (2012)

Anaerobic bacteria are the predominant normal flora of the mucous membranes which may cause life-threatening disseminated infections and are often difficult to culture from infected sites. Eggerthella (previously known as Eubacteria species) is an anaerobic, nonsporulating, nonmotile, Gram-positive rod that is found in the human colon and feces and has been isolated from various other clinical specimens. We report a case of complicated disseminated anaerobic bacterial infection with Eggerthella lenta in a healthy immunocompetent man causing multiple brain abscesses, liver abscesses, necrotizing pneumonia, and osteomyelitis of the left radial bone. He was successfully treated with empiric penicillin G and metronidazole.
Two-rooted maxillary first molars with two canals: a case series
Authors: Sahar Shakouie, Hadi Mokhtari, Negin Ghasemi, Seddigheh Gholizadeh
Journal: Iran Endod J (2013)
Keywords: anatomy, dental pulp cavity, molar, tooth abnormalities, tooth root
MeSH terms: Case Reports

Thorough understanding of the anatomic and internal morphology of a root canal system is absolutely essential for the success of endodontic treatment. Since permanent maxillary first molars have shown variation in internal anatomy, morphology, this tooth has been reviewed extensively. Presence of two canals in a two-rooted maxillary first molar has rarely been reported in studies describing tooth and root canal anatomies. In this report, three cases are presented, which involve the root canal treatment of maxillary first molars with fusion of the two buccal roots.
Retroaortic left renal vein in a case of left adrenal adenoma: radiological findings
Authors: Alper Dilli, Umit Yasar Ayaz, Osman Raif Karabacak, Baki Hekimoglu
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

It is important to diagnose retroaortic left renal vein (RLRV) before a probable retroperitoneal surgery in a case of a suspicious adrenal mass. Our purpose is to present the ultrasonography (US), computed tomography (CT), and magnetic resonance imaging (MRI) findings in a case of left adrenal adenoma with a coincidental RLRV and to discuss the clinical importance of their imaging. Abdominal and scrotal US, abdominal CT and MRI were performed for a 50-year-old male patient who was referred with continuous abdominal pain, intractable hypertension, high levels of blood cortisol and proteinuria. On US, a hypoechoic solid mass measuring 4 × 3 cm in the left adrenal location and coincidental RLRV, besides multiple renal cysts, hepatomegaly, left-sided varicocele, and small-sized left testis were detected. CT and MRI also revealed the mass in the left adrenal gland which was consistent with adenoma. With CT and MRI, presence of RLRV was also verified.
Spontaneous Remission of Congenital Complete Atrioventricular Block in Anti-Ro/La Antibody-Negative Monozygotic Twins: Case Report
Authors: Taner Kasar, Murat Saygı, İsa Özyılmaz, Yakup Ergül
Journal: Balkan Med J (2017)
Keywords: anti-ro/la antibody, congenital heart block, discordant complete atrioventricular block, infants
MeSH terms: Atrioventricular Block / congenital, Remission, Spontaneous, Twins, Monozygotic / genetics, Case Reports, Antibodies, Antinuclear / analysis, Antibodies, Antinuclear / blood, Atrioventricular Block / genetics, Female, Humans, Infant, Newborn, Antibodies, Antinuclear, SS-A antibodies

Background:
Congenital complete atrioventricular block without any structural heart disease and anti-Ro/La negativity is very rare. Discordant complete atrioventricular block, which is more frequently defined in the literature as an autoimmune mechanism, is much more rare in monozygotic twins.
Case report:
The 26-year-old healthy mother had given birth in her first spontaneous, uneventful pregnancy to monozygotic twins at week 35. While the first twin's physical examination proved her to be normal with a pulse rate consistent with her age, the second twin had a pulse rate of approximately 40 beats/minute.The patient was confirmed to have congenital complete atrioventricular block.
Conclusion:
Despite this case appears to be an isolated one, a discordant complete atrioventricular block regression without any autoimmune evidence should be included in the differential diagnosis of bradycardia in infants.
Undifferentiated embryonal sarcoma masquerading as liver abscess: A case report with typical imaging features
Authors: Ranjan K Patel, Swasti Pathak
Journal: SA J Radiol (2021)
Keywords: fever, haemorrhage, liver abscess, paradoxical appearance, serpiginous vessels, undifferentiated embryonal sarcoma
MeSH terms: Case Reports

Undifferentiated embryonal sarcoma (UES) is an uncommon paediatric hepatic tumour that clinically simulates a liver abscess when present with fever. This report describes a case of UES in a 12-year-old boy, who presented with abdominal pain, swelling and fever, all simulating a liver abscess. The possibility of UES was considered at imaging, based on the solid appearance on ultrasound and cystic appearance with serpiginous peripheral vessels on computed tomography/magnetic resonance imaging. The diagnosis was confirmed at histopathology.
Case Report: Pseudomeningeosis and Demyelinating Metastasis-Like Lesions From Checkpoint Inhibitor Therapy in Malignant Melanoma
Authors: Teresa Schmidt, Sied Kebir, Elisabeth Livingstone, Andreas Junker, Stefan Zülow, Lazaros Lazaridis, Christoph Oster, Eleftheria Chorti, Daniela Pierscianek, Refik Pul, Kathy Keyvani, Ulrich Sure, Martin Stuschke, Christoph Kleinschnitz, Björn Scheffler, Lisa Zimmer, Martin Glas
Journal: Front Oncol (2021)
Keywords: immune checkpoint inhibitors, immune-related adverse events, leptomeningeal metastasis, melanoma, pseudomeningeosis
MeSH terms: Case Reports

Immune checkpoint inhibitors (ICIs) have considerably expanded the effective treatment options for malignant melanoma. ICIs revert tumor-associated immunosuppression and potentiate T-cell mediated tumor clearance. Immune-related neurologic adverse events (irNAEs) manifest in the central (CNS) or peripheral nervous system (PNS) and most frequently present as encephalitis or myasthenia gravis respectively. We report on a 47-year old male patient with metastatic melanoma who developed signs of cerebellar disease five weeks after the start of ICI treatment (ipilimumab and nivolumab). Magnetic resonance imaging (MRI) of the brain and spine revealed multiple new contrast enhancements suggestive of parenchymal and leptomeningeal metastasis. Cerebral spinal fluid (CSF) evaluation showed a lymphomononuclear pleocytosis in the absence of tumor cells. Subsequent stereotactic brain biopsy confirmed demyelinating disease. High-dose corticosteroid treatment resulted in immediate improvement of the clinical symptoms. MRI scans and CSF re-evaluation were conducted six weeks later and showed a near-complete remission. The strong resemblance to neoplastic CNS dissemination and irNAEs is a particularly difficult diagnostic challenge. Treating physicians should be aware of irNAEs as those can be effectively treated with high-dose steroids.
Urinothorax Caused by Xanthogranulomatous Pyelonephritis
Authors: Waiel Abusnina, Hazim Bukamur, Zeynep Koc, Fauzi Najar, Nancy Munn, Fuad Zeid
Journal: Case Rep Pulmonol (2018)
MeSH terms: Case Reports

Xanthogranulomatous pyelonephritis is a rare form of chronic pyelonephritis that generally afflicts middle-aged women with a history of recurrent urinary tract infections. Its pathogenesis generally involves calculus obstructive uropathy and its histopathology is characterized by replacement of the renal parenchyma with lipid filled macrophages. This often manifests as an enlarged, nonfunctioning kidney that may be complicated by abscess or fistula. This case details the first reported case of xanthogranulomatous pyelonephritis complicated by urinothorax, which resolved on follow-up chest X-ray after robot-assisted nephrectomy.
Pleomorphic Adenoma of the Larynx: A Case Report
Authors: Seyyed Jafar Motahari, Fereshteh Khavarinejad, Shahram Salimi, Milad Bahari
Journal: Iran J Otorhinolaryngol (2016)
Keywords: pleomorphic adenoma, trans hyoid pharyngotomy, ventricle of the larynx
MeSH terms: Case Reports

Introduction:
Pleomorphic adenomas are tumors mostly originating from salivary glands. These lesions in the larynx are very rare.
Case report:
We report a rare case of pleomorphic adenoma that originated from the mucosal lining, just above the glottic area at the level of the laryngeal ventricle in a 55-year-old female patient. The tumor could not be palpated easily but was observed in the CT scan. We resected the large and firm tumor using trans hyoid pharyngotomy as the surgical approach.
Conclusion:
Pleomorphic adenoma in the ventricle of the larynx is an extremely rare lesion. Trans-hyoid pharyngotomy can have good results as the surgical approach in removing such lesions.
Response of follicular dendritic cell sarcoma to gemcitabine and docetaxel: report of two cases and literature review
Authors: Robert M Conry
Journal: Clin Sarcoma Res (2014)
Keywords: chemotherapy, docetaxel, follicular dendritic cell, gemcitabine, metastatic, sarcoma
MeSH terms: Case Reports

Follicular dendritic cell sarcoma is a rare malignancy arising from follicular dendritic cells, which form a meshwork within lymphoid follicles. Traditional treatment of metastatic disease with CHOP chemotherapy, the most commonly used regimen for lymphoid malignancies, has met with limited success. I report herein two cases of follicular dendritic cell sarcoma metastatic to the liver treated with the combination of gemcitabine and docetaxel showing unprecedented response in this disease. These observations coupled with recent evidence of a mesenchymal origin of follicular dendritic cells support the premise that this malignancy should be treated similar to other adult soft tissue sarcomas.