OpenMed/multicare-articles huggingface dataset:
Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature
Authors: Chariyawan Charalsawadi, Somchit Jaruratanasirikul, Areerat Hnoonual, Aussanai Chantarapong, Pornsiri Sangmanee, Sasipong Trongnit, Natini Jinawath, Pornprot Limprasert
Journal: Front Genet (2022)
Keywords: snp microarray, chimerism, down syndrome, mechanism, mosaicism
MeSH terms: Case Reports

Chimerism is a very rare genetic finding in human. Most reported cases have a chi 46,XX/46,XY karyotype. Only three non-twin cases carrying both trisomy 21 and a normal karyotype have been reported, including two cases with a chi 47,XY,+21/46,XX karyotype and a case with a chi 47,XX,+21/46,XY karyotype. Herein we describe an additional case with a chi 47,XY,+21/46,XX karyotype. For the case, a physical examination at the age of 1 year revealed ambiguous genitalia with no features of Down syndrome or other malformations. Growth and developmental milestones were within normal ranges. We performed short tandem repeat (STR) and single nucleotide polymorphism (SNP) microarray analyses to attempt to identify the mechanism underlying the chimerism in this patient and the origin of the extra chromosome 21. Cytogenetic analyses of the patient's peripheral blood revealed approximately 17% of a 47,XY,+21 lineage by G-banding karyotype analysis, 13%-17% by FISH analyses of uncultured peripheral blood, and 10%-15% by SNP microarray analysis. Four years later, the percentage of trisomy 21 cells had decreased to approximately 6%. SNP microarray and STR analyses revealed a single maternal and double paternal genetic contribution to the patient for the majority of the markers, including the chromosome 21 markers. The extra chromosome 21 was paternally derived and meiosis I nondisjunction likely occurred during spermatogenesis. The mechanisms underlying chimera in our case was likely fertilization two spermatozoa, one with an ovum and the other with the second polar body.
Successful surgical retrieval of Celt ACD® vascular closure device embolised in the tibioperoneal trunk
Authors: Qusai Aljarrah, Ma'moon Al-Omari, Kawthar Qader, Jozef Oweis, Ahmad Althaher
Journal: CVIR Endovasc (2018)
Keywords: celt acd®, foreign body embolism, tibioperoneal trunk, vascular closure device

Background:
This report presents a case of surgical retrieval of a Celt ACD® vascular closure device (VCD) situated in the tibioperoneal trunk, following a failed attempt at deployment. Existing literature mostly recommends an endovascular approach when attempting to retrieve embolised VCDs.
Case presentation:
A 55 year old male presented with right sudden right lower limb pain and numbness 1 week following a successful left retrograde superficial femoral artery (SFA) angioplasty. Computed tomography (CT) angiogram revealed that the Celt ACD® VCD had embolised in the right tibioperoneal trunk. An endovascular approach was initially attempted to retrieve the VCD; however, this was unsuccessful due to the small diameter of the target artery. Due to the failure of the endovascular approach, surgical exploration of the right tibioperoneal trunk was undertaken, which led to the successful retrieval of the embolised VCD.
Conclusion:
The case presented herein demonstrates the critical need for swift and decisive surgical exploration of patients with suspected embolisation of Celt ACD® devices in smaller distal arteries. Our experience has led to the recommendation that, due to the sharp edges of the Celt ACD® accompanied with the small diameter of the occluded vessels, surgical exposure and retrieval is the safest option if endovascular retrieval is unsuccessful.
Anaplastic Pleomorphic Xanthoastrocytoma Presenting with Musical Hallucination
Authors: Oreoluwa Oladiran, Ifeanyi Nwosu, Steve Obanor, Chinyere Ogbonna-Nwosu, Brian Le
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Musical hallucinations are a relatively rare form of auditory hallucination characterized by hearing of music in the absence of any external stimuli. This phenomenon has been linked to both psychiatric and structural lesions. We present the case of a previously healthy young male whose presentation with musical hallucinations led to the diagnosis of a rare tumour, anaplastic pleomorphic xanthoastrocytoma.
Single-Stage Endovascular Treatment of Severe Cranial Artery Stenosis Coexisted With Ipsilateral Distal Tandem Intracranial Aneurysm
Authors: Hongyang Ni, Zhihong Zhong, Jun Zhu, Hong Jiang, Jinqing Hu, Dong Lin, Liuguan Bian
Journal: Front Neurol (2022)
Keywords: coexistence, cranial artery stenosis, endovascular treatment, intracranial aneurysm, single-stage

Objective:
The coexistence of severe cranial artery stenosis and ipsilateral distal tandem intracranial aneurysm is an unusual phenomenon. Currently, there is no consensus to provide treatment guidelines for concomitant lesions. This study aims to evaluate the safety and effectiveness of single-stage endovascular treatment in patients under this special condition.
Methods:
We illustrated a case series of 10 patients with the coexistence of severe cranial artery stenosis and ipsilateral distal tandem intracranial aneurysm in our hospital. And a systematic PubMed search of English-language literature published between 1990 and 2021 was carried out using the keywords: "(carotid OR vertebral OR subclavian artery stenosis) AND (aneurysm) AND (coincident OR coexist OR concomitant OR simultaneous OR ipsilateral)." Clinical information, including age, gender of the patients, as well as symptoms (artery stenosis or aneurysm), localization of artery stenosis and aneurysm, treatment, and outcome, were collected and analyzed.
Results:
In the majority of the patients, symptoms were attributed to severe artery stenosis, and the coexisted lesions were located in the anterior circulation system. Most patients achieved an excellent clinical outcome, and no death was observed. No differences were found in a prognosis between single-stage or multiple-stage endovascular treatment.
Conclusions:
A single-stage endovascular procedure is technically feasible and effective to treat the coexistence of severe cranial artery stenosis and ipsilateral distal tandem intracranial aneurysm in the anterior circulation as well as in the posterior circulation.
Appearance of CNS histoplasmosis on 18F-FDG PET/CT with MRI correlation
Authors: William Makis, Rajan Rakheja, Stephan Probst
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Disseminated histoplasmosis is an opportunistic infection encountered in immunocompromised patients such as those with human immunodeficiency virus infection/acquired immune deficiency syndrome. Involvement of the central nervous system (CNS) can occur in 5-20% of cases of disseminated histoplasmosis, and CNS histoplasmosis can be very difficult to diagnose via conventional imaging modalities such as CT or MRI. The role of 18F-fludeoxyglucose positron emission tomography/CT scan in the diagnosis of CNS histoplasmosis has not been established. A 66-year-old female presented with dizziness and unsteady gait and was diagnosed with human immunodeficiency virus infection and CNS histoplasmosis. In this report, we present the MRI and 18F-fludeoxyglucose positron emission tomography/CT image findings.
Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant
Authors: Matthew Katz, Leigh B Waddell, Michaela Yuen, Samantha J Bryen, Emily Oates, Fleur C Garton, Thomas Robertson, Robert David Henderson, Sandra T Cooper, Pamela A McCombe
Journal: Front Neurol (2023)
Keywords: lama2, genotype, limb girdle muscular dystrophy, phenotype, whole exome sequencing
MeSH terms: Case Reports

Recessive pathogenic variants in the laminin subunit alpha 2 (LAMA2) gene cause a spectrum of disease ranging from severe congenital muscular dystrophy to later-onset limb girdle muscular dystrophy (LGMDR23). The phenotype of LGMDR23 is characterized by slowly progressive proximal limb weakness, contractures, raised creatine kinase, and sometimes distinctive cerebral white matter changes and/or epilepsy. We present two siblings, born to consanguineous parents, who developed adult-onset LGMDR23 associated with typical cerebral white matter changes and who both later developed dementia. The male proband also had epilepsy and upper motor neuron signs when he presented at age 72. Merosin immunohistochemistry and Western blot on muscle biopsies taken from both subjects was normal. Whole exome sequencing revealed a previously unreported homozygous missense variant in LAMA2 [Chr6(GRCh38):g.129297734G>A; NM_000426.3:c.2906G>A; p.(Cys969Tyr)] in the proband. The same homozygous LAMA2 variant was confirmed by Sanger sequencing in the proband's affected sister. These findings expand the genotypic and phenotypic spectrum of LGMDR23.
Resistance to Both Chemotherapy and EGFR-TKI in Small Cell Lung Cancer With EGFR 19-Del Mutation: A Case Report
Authors: Lingfei Wang, Fangyuan Dong, Jie Su, Guanjun Du, Yang Shao, Ying Liu, Xuequn He, Liubin Bao, Wei Wang, Xin Guo, Xi Wang
Journal: Front Oncol (2020)
Keywords: egfr 19-del, egfr-tki, pten mutation, sclc, drug resistance
MeSH terms: Case Reports

Epidermal growth factor receptor (EGFR) mutations are common in non-small cell lung cancers, but rare in small cell lung cancers (SCLCs). In previous reports, some SCLC patients with EGFR mutations could benefit from EGFR tyrosine kinase inhibitors (TKIs). In this study, we reported a case in which an SCLC patient with EGFR exon 19 deletion (19-Del) mutation did not benefit from EGFR-TKIs. Interestingly, the standard treatment strategies for SCLC also failed to control tumor progression. Moreover, we screened 43 SCLC patients in China and found that the frequency of EGFR mutations in Chinese SCLC patients was about 4.65% by next-generation sequencing (NGS). Collectively, this case illustrated a rare subtype of SCLCs which harbored EGFR mutations and was intrinsically resistant to standard treatments and EGFR-TKIs. We also tried to explore the mechanisms underlying drug resistance. The literature concerning SCLCs with EGFR mutations is reviewed.
Endoscopic endonasal resection of an epidermoid cyst in the cavernous sinus: A case report and literature review
Authors: Yinzi Wu, Zhimin Li, Jun Gao, Yong Yao, Renzhi Wang, Xinjie Bao
Journal: Front Oncol (2022)
Keywords: cavernous sinus (cs), endoscopic endonasal transcavernous approach, endoscopic surgery, epidermoid cyst, parasellar lesion
MeSH terms: Case Reports

Background:
Epidermoid cysts of cavernous sinus (CS) are rare congenital neoplasms of the central nervous system. In previous literature reports, the treatment for CS epidermoid cysts was mainly microsurgical resection, and the surgical methods included simple microsurgery and endoscope-assisted microsurgery. The present case report demonstrates the first case of complete resection of a CS epidermoid cyst by a simple endoscopic endonasal transcavernous (EET) approach.
Case presentation:
A 54-year-old woman presented with chronic persistent headaches and occasional syncope. Brain MRI demonstrated a space-occupying lesion of the left CS, and digital substruction angiography (DSA) showed a small aneurysm at the beginning of the left ophthalmic artery. Thrombotic therapy of carotid-ophthalmic aneurysms was performed first, and the patient underwent resection of the CS lesion secondary. Considering the location of the lesion and the neuroendoscopy technology and experience of the doctor, we made bold innovations and used an EET approach to achieve complete resection of the lesion. The postoperative pathological results were consistent with the characteristics of epidermoid cyst. During the 1-year follow up, the patient showed no apparent signs of recurrence on head MRI.
Conclusion:
Epidermoid cyst of cavernous sinus is a rare benign occupying lesion in cavernous sinus. Reviewing the previous literature, the main treatment is microneurosurgery, and neuroendoscopy is only used as an auxiliary equipment. We present the first case of complete endoscopic resection of CS epidermoid cyst by EET approach according to CARE guidelines, aiming to share the new surgical plan for CS epidermoid cyst and provide more surgical options for this disease for neurosurgery colleagues.
Rapid progression of marginal zone B-cell lymphoma after COVID-19 vaccination (BNT162b2): A case report
Authors: Akinori Sekizawa, Kenichi Hashimoto, Shinichi Kobayashi, Sawako Kozono, Takahiro Kobayashi, Yusuke Kawamura, Motohiro Kimata, Naoya Fujita, Yosuke Ono, Yasuhiro Obuchi, Yuji Tanaka
Journal: Front Med (Lausanne) (2022)
Keywords: b cell, bnt162b2, covid-19, lymphadenopathy, lymphoma, mrna vaccine, marginal zone b-cell lymphoma
MeSH terms: Case Reports

B-cell lymphomas are neoplastic diseases occasionally associated with chronic inflammation. mRNA vaccines for coronavirus disease 2019 (COVID-19) induce inflammatory responses, which often lead to fever and lymphadenopathies indistinguishable from lymphomas. Although both lymphadenopathies and lymphomas can be influential, the correlation between them is unclear. Herein, we present the first case of marginal zone B-cell lymphoma following mRNA COVID-19 vaccination. An 80-year-old Japanese woman presented with a right temporal mass that appeared the morning after she was administered her first mRNA COVID-19 vaccination (BNT162b2). The mass gradually decreased in size but persisted over 6 weeks after her first vaccination (3 weeks after her second vaccination). At her first visit to our hospital, ultrasound revealed the size of the mass to be 28.5 × 5.7 mm, and computed tomography revealed multiple lymphadenopathies in the right parotid, submandibular, jugular, and supraclavicular regions. Initially, we suspected head-and-neck benign lymphadenopathy as a side effect of vaccination. Nine weeks later, the number of swollen submandibular and parotid glands increased, and the lymph nodes further enlarged. Finally, the right temporal mass was diagnosed as marginal zone B-cell lymphoma based on immunohistochemical and flow cytometry findings of biopsy specimens. Our findings suggest that although 4-6 weeks of observation for lymph node inflammation after the second vaccination is recommended, malignancy should also be considered in the differential diagnosis of lymphadenopathy following vaccination.
Jejunal Diverticulosis Probably Leading to Pylephlebitis of the Superior Mesenteric Vein
Authors: Julia Bockmeyer, Stephanie Taha-Mehlitz, Nickolaus Heeren, Stefan Ristic, Jürg Metzger, Jörn-Markus Gass
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Thrombophlebitis of the portal vein (pylephlebitis) is a rare but serious condition with a high mortality rate of 11-50%. A 56-year-old male patient presented with a two-day history of postprandial, colic-like epigastric pain, nausea, fever, chills, and diarrhea. Clinical workup showed peritonism, leukocytosis, and elevated C-reactive protein (CRP). A computed tomography (CT) scan revealed a long-segment, partial thrombosis of the superior mesenteric vein as well as gas in the portal venous system. Additionally, extensive jejunal diverticulosis was present. Pylephlebitis mostly results from intestinal infections, e.g., appendicitis or diverticulitis. We assumed that the patient had suffered from a self-limiting episode of jejunal diverticulitis leading to septic thrombosis. Initially, antibiotic therapy and anticoagulation with heparin were administered. The patient deteriorated, and due to increasing abdominal defense, fever, and hypotension, a diagnostic laparoscopy was performed. Bowel ischemia could be ruled out, and after changing antibiotic therapy, the patient's condition improved. He was discharged without any further complications and without complaints on day 13. An underlying coagulopathy like myeloproliferative neoplasm or antiphospholipid syndrome could be ruled out.
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants
Authors: Ariadna González-Del Angel, Michela Bisciglia, Steven Vargas-Cañas, Francisca Fernandez-Valverde, Ekaterina Kazakova, Rosa Elena Escobar, Norma B Romero, Claude Jardel, Benoit Rucheton, Tanya Stojkovic, Edoardo Malfatti
Journal: Front Neurol (2019)
Keywords: dna2, cardiomyopathy, early onset myopathy, mitochondrial disease, rhabdomyolysis, velopharyngeal weakness
MeSH terms: Case Reports

Objectives: To report two novel DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis. Methods: We performed detailed clinical, muscle histopathology and molecular studies including mitochondrial gene NGS analysis in two patients (Patient 1 and 2), a mother and her son, belonging to a Mexican family, and a third sporadic French patient. Results: Patient 1 and 2 presented with an early onset myopathy associated with ptosis, velopharyngeal weakness, and cardiac involvement. Patient 3 presented rhabdomyolysis unmasking a mitochondrial disease characterized by a sensorineural hearing loss, ptosis, and lipomas. Muscle biopsies performed in all patients showed variable mitochondrial alterations. Patient 3 had multiple mtDNA deletion in his muscle. Genetic studies revealed a novel heterozygous frameshift mutation in DNA2 gene (c.2346delT p.Phe782Leufs*3) in P1 and P2, and a novel heterozygous missense mutation in DNA2 gene (c.578T>C p.Leu193Ser) in the P3. Conclusions: To date only few AD cases presenting either missense or truncating DNA2 variants have been reported. None of them presented with a cardiac involvement or rhabdomyolysis. Here we enlarge the genetic and phenotypic spectrum of DNA2-related mitochondrial disorders.
Gemella morbillorum infective endocarditis: A case report and literature review
Authors: Xuejie Cao, Lichao Yuan
Journal: Open Life Sci (2023)
Keywords: gemella morbillorum, aortic valve, infective endocarditis, metagenome next-generation sequencing
MeSH terms: Case Reports

Infective endocarditis (IE) caused by Gemella morbillorum is rare. Consequently, little is known about the natural course of endocarditis caused by this pathogen. This report describes the case of a 37-year-old male patient with G. morbillorum endocarditis. The patient was hospitalized for a fever of unknown origin. He complained of intermittent fever of unknown origin for 2 months. He had also undergone root canal therapy for pulpitis a month ago. After admission, the infectious pathogen G. morbillorum was identified using metagenomic next-generation sequence technology. The anaerobic blood culture bottle showed only Gram-positive cocci. Transthoracic echocardiography showed 10 mm vegetation on the aorta, which met the IE diagnostic Duke's criteria, and the patient was diagnosed with G. morbillorum IE. Because no bacterial colonies were formed on the culture, the drug sensitivity test could not be conducted. Ceftriaxone anti-infective drugs are based on careful consideration of the literature and patient. Six days after antibiotic treatment in our department, the patient was discharged from the hospital in stable condition and had no adverse reactions at 1 week of follow-up. To help clinicians better understand the disease of G. morbillorum IE, we also reviewed and discussed the relevant cases published after 2010 when presenting the report.
Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites
Authors: Xuliang Zhao, Xu Li, Weiwei Sun, Jian-An Jia, Min Yu, Ruixia Tian
Journal: Front Pediatr (2022)
Keywords: lvnc, wes, congenital heart disease, prenatal diagnosis, tafazzin
MeSH terms: Case Reports

Barth syndrome (BTHS) is a rare X-linked recessive genetic disease, which appears in infancy with myocardial and skeletal muscle diseases, neutropenia, growth retardation, and other clinical features. TAFAZZIN is the pathogenic gene of BTHS, which encodes the tafazzin protein of the inner membrane of the mitochondria, a phosphatidyltransferase involved in cardiolipin remodeling and functional maturation. At present, BTHS has been widely reported, but prenatal cases are rare. We report a 24+4-week fetus with clinical manifestations including left ventricular insufficiency and ascites. After induced labor, whole exome sequencing detection of fetal skin tissue showed that TAFAZZIN had the mutation c.311A > C/p.His104Pro and that his mother was the carrier. This His104Pro mutation has hitherto not been reported, and it is rated as likely to be pathogenic according to the American College of Medical Genetics and Genetics guidelines. Molecular dynamics and protein expression experiments on the His104Pro mutation showed that the stability of the local protein structure and protein expression were reduced. In conclusion, the case presented in this study enriches our knowledge of the TAFAZZIN mutation spectrum and suggests that His104Pro may lead to cardiac structural abnormalities in the early embryo. The possibility of BTHS should be considered when an abnormal cardiac structure or ascites appear in a prenatal ultrasound.
Recurrent Oral Mucocele Management with Diode Laser
Authors: Amira Besbes, Yamina Elelmi, Faten Khanfir, Raja Belgacem, Hichem Ghedira
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Background:
Mucocele is the most common minor salivary glands disease. Its management may present a challenge for dental professionals. The aim of the present clinical case was to describe mucocele treatment with diode laser and its benefits. Case Report. A case of lower lip mucocele in a 10-year-old female patient is reported. A conventional excision surgery was performed. Two months later, the patient reported discomfort and swelling at the same operative site. The lesion had recurred. Thus, mucocele was removed using a diode laser with wavelength of 980 nm, an initiated fiberoptic tip of 300 μm, in continuous mode, and a power setting of 2 Watts. The procedure was rapidly completed with no bleeding. The patient was followed-up after 2 weeks and 6 months. The wound healed without complications: no postoperative discomfort or pain and no infection. There was no recurrence.
Conclusion:
Diode laser is an effective, easy, bloodless, and well-accepted procedure to treat mucocele in pediatric patients.