OpenMed/multicare-articles huggingface dataset:
Diagnosis of an imported Plasmodium ovale wallikeri infection in Malaysia
Authors: Jonathan Wee Kent Liew, Rohela Mahmud, Lian Huat Tan, Yee Ling Lau
Journal: Malar J (2016)
MeSH terms: Malaria / diagnosis, Plasmodium ovale / pathogenicity, Case Reports, Research Support, Non-U.S. Gov't, Adult, DNA, Protozoan / genetics, Humans, Malaria / physiopathology, Malaysia, Male, Plasmodium ovale / genetics, Polymerase Chain Reaction, RNA, Protozoan / genetics, Young Adult, DNA, Protozoan, RNA, Protozoan

Plasmodium ovale is rare and not exactly known to be autochthonous in Malaysia. There are two distinct forms of the parasite, namely P. ovale curtisi (classic form) and P. ovale wallikeri (variant form). Here, the first sequence confirmed case of an imported P. ovale wallikeri infection in Malaysia is presented. Microscopy found Plasmodium parasites with morphology similar to P. ovale or Plasmodium vivax in the blood films. Further confirmation using polymerase chain reaction (PCR) targeting the small-subunit rRNA gene of the parasite was unsuccessful. Genus-specific PCR was then performed and the product was sequenced and analysed. Sequence analyses confirmed the aetiological agent as P. ovale wallikeri. New species-specific primers (rOVA1v and rOVA2v) were employed and P. ovale wallikeri was finally confirmed. The findings highlight the need to look out for imported malaria infections in Malaysia and the importance of a constantly updated and validated diagnostic technique.
Complete genome sequence of Clostridium perfringens CBA7123 isolated from a faecal sample from Korea
Authors: Yeon Bee Kim, Joon Yong Kim, Hye Seon Song, Changsu Lee, Joseph Kwon, Jisu Kang, Jin-Kyu Rhee, Myeong Seon Jeong, Young-Do Nam, Seong Woon Roh
Journal: Gut Pathog (2017)
Keywords: antimicrobial resistant, clostridium perfringens, comparative genomic analysis, complete genome sequence, pathogenesis, virulence factor
MeSH terms: Case Reports

Background:

Clostridium perfringens is an opportunistic human pathogen that causes necrotic enteritis, mild diarrhea, clostridial myonecrosis or gas gangrene, sepsis, etc. In this study, we aim to determine the pathogenesis of this bacterium at the genomic level. The genome of strain CBA7123 was sequenced, and a comparative genomic analysis between strain CBA7123 and four other related C. perfringens strains was performed.
Results:
The genome of strain CBA7123 consisted of one circular chromosome and one plasmid that were 3,088,370 and 46,640 bp long with 28.5 and 27.1 mol% G+C content, respectively. The genomic DNA was predicted to contain 2798 open reading frames (ORFs), 10 rRNA genes, and 94 tRNA genes. The genomic comparison analysis between the five strains revealed the distinctive virulence properties of strain CBA7123 by highlighting certain strain-specific genes.
Conclusions:
In this study, the C. perfringens CBA7123 genome was sequenced and compared with other C. perfringens genomes. Among the various genes sequenced, the detection of antimicrobial resistance genes and those encoding various virulence factors may extend the understanding of the pathogenesis of C. perfringens strains.
Tremor Drugs in the Crosshairs
Authors: Tjerk J Lagrand, Alexander C Lehn
Journal: Tremor Other Hyperkinet Mov (N Y) (2021)
Keywords: tremor, alopecia areata, levodopa, medication-induced, propranolol, topiramate
MeSH terms: Alopecia Areata, Parkinson Disease / drug therapy, Case Reports, Female, Humans, Middle Aged, Tremor / chemically induced, Tremor / drug therapy

Background:
Alopecia areata is a rare but debilitating adverse effect of drugs used in the treatment of tremors. Recurrent hair loss after different types of tremor medications has never been described before.
Case report:
We herein report the case of a 56-year-old tremor patient who we diagnosed with tremor-dominant Parkinson's disease. Unfortunately, she developed acute alopecia areata following the introduction of firstly levodopa/benserazide, secondly propranolol, and thirdly topiramate.
Discussion:
Our case report highlights alopecia areata as a possible side effect to a variety of drugs commonly used for tremor management. Fortunately, in most reported cases, as well as in our case, the hair loss is reversible.
Case report: A rare manifestation of vasospasm induced myocardial infarction with ST-segment elevation in a young male patient
Authors: Laurynas Diečkus, Greta Rodevič, Arvydas Baranauskas, Giedrius Davidavičius, Povilas Budrys
Journal: Front Cardiovasc Med (2023)
Keywords: cas, stemi, case report, vasospasm, young patient
MeSH terms: Case Reports

Background:
Minority of acute myocardial infarctions (MI) are caused by a non-atherosclerotic occlusion of the coronary artery. We present a case report, where MI with ST-segment elevation was provoked by a vasospasm, which is a rare aetiological finding.
Case presentation:
27-year-old male patient presented to the emergency department because of a sudden onset chest pain radiating to the left arm. The patient underwent percutaneous coronary intervention (PCI) to the right coronary artery (RCA) 3 months ago due to inferior wall MI, however, chest pain episodes kept on recurring at night throughout the whole period after the intervention. During current admission, initial electrocardiogram (ECG) demonstrated ST-segment elevation in leads II, III and aVF. Coronary angiogram revealed diffuse severe narrowing of the right coronary artery, which was relieved with intracoronary administration of nitrates and verapamil. After coronary angiogram patient was given oral long-acting nitrates and verapamil, however, during the following days nocturnal chest pain episodes reoccurred. It was decided to swap verapamil to diltiazem, which led to complete cessation of angina episodes. The patient was discharged in stable condition and symptom free. It was suspected that the first MI was of vasospastic origin, which likely led to unnecessary stenting.
Conclusions:
This clinical case has demonstrated the challenges clinician could face in order to correctly diagnose vasospasm-induced MI because of its rare occurrence and highly variable presentation. We strongly suggest using intracoronary nitroglycerine during coronary angiography as a standard practice to avoid a potential diagnostic error and unnecessary stenting. Although, in some cases the reason behind coronary artery spasm (CAS) remains unclear, medical treatment can be very effective for CAS prevention.
Misdiagnosed cartilaginous PCL avulsion in young children
Authors: Romain Pacull, Florian Bourbotte-Salmon, Margaux Buffe-Lidove, Nicolas Cance, Franck Chotel
Journal: SICOT J (2021)
Keywords: bony, cartilaginous femoral avulsion, children, mri, misdiagnosis, posterior cruciate ligament
MeSH terms: Case Reports

Posterior Cruciate Ligaments injuries are rare in children and usually due to bony avulsion fractures or midsubstance tears. This study focused on cartilaginous avulsions initially misdiagnosed despite of MRI assessment. Two 6-year-old boys had cartilaginous avulsion fracture injury at the femoral attachment of the PCL. One had associated medial meniscal lesion and was reinserted. The other conducted to non-union. MRI second lecture reveals an original description with nail-biting sign on cartilage surface of anterior notch, and a close PCL angle without anterior tibial translation. No bone bruise was associated. Similarly, to ACL cartilaginous tibial avulsions, PCL cartilaginous femoral avulsions are underdiagnosed. When knee hemarthrosis occurs under the age of nine, clinician and radiologist should be aware that cartilaginous avulsion of ACL and PCL also could be the main pattern of lesion.
Anti-CV2 Autoimmune Encephalitis With Parkinson-Like Symptoms and Bilateral Leukoencephalopathy-A Case Report
Authors: Xuan Wu, Huayan Wang, Guorong Xu, Yu Lin
Journal: Front Neurol (2019)
Keywords: parkinson's disease, breast cancer, encephalitis, leukoencephalopathy, paraneoplastic syndrome
MeSH terms: Case Reports

Objective: To present a patient with anti-CV2 autoimmune encephalitis admitted for Parkinson-like symptoms and bilateral leukoencephalopathy. Case report: The patient was admitted for Parkinson-like symptoms combined with loss of taste. Serum anti-CV2 antibody was positive. Cranial magnetic resonance imaging revealed bilateral leukoencephalopathy. Breast cancer was detected by positron emission tomography (PET) and ultrasound. Immunotherapy was not performed. Modified radical mastectomy revealed a pT1cN0M0 breast cancer, positive for estrogen and progesterone receptors, and HER2 negative. The resting tremors disappeared by 1 week after surgery. The modified Rankin score (mRS) was four before surgery, and decreased to one at 9 months after surgery. Conclusion: Anti-CV2 autoimmune encephalitis can present as Parkinsonism with bilateral leukoencephalopathy on MRI. PET scanning can be useful to reveal an occult cancer. Treatment of the cancer may improve the paraneoplastic neurological syndrome without the need of immunosuppressive therapy.
The Meaning of Social Participation for Daily Mobility in Later Life: an Ethnographic Case Study of a Senior Project in a Swedish Urban Neighbourhood
Authors: Vanessa Stjernborg
Journal: Ageing Int (2017)
Keywords: context, older people, place, wellbeing

This paper presents an ethnographic case study that aims to understand the meaning of social participation in a neighbourhood for daily mobility in later life. In the study, the mobility of the participants of a senior-citizen project was monitored over 18 months. The project was founded as a result of a municipal district's targeting of social sustainability. The results show that social participation had positive effects on the daily mobility of the participants. The implementation of broad-minded thinking from the municipality and the cooperation of various municipal actors were shown to be essential for the positive outcome of this project.
Cleidocranial dysplasia case report: remodeling of teeth as aesthetic restorative treatment
Authors: Leonardo Fernandes da Cunha, Isabela Maria Caetano, Fernando Dalitz, Carla Castiglia Gonzaga, José Mondelli
Journal: Case Rep Dent (2014)

Cleidocranial dysplasia (CCD), is an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals. It is generally characterized by orofacial manifestations, including enamel hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth. The successful treatment involving a timing intervention (orthodontic-maxillofacial surgeons-restorative) is already described. However, the restorative treatment might improve the aesthetic final result in dentistry management for patients with cleidocranial dysplasia. Objective. Therefore, this clinical report presents a conservative restorative management (enamel microabrasion, dental bleaching, and direct composite resin) for aesthetic solution for a patient with CCD. Clinical Considerations. The cosmetic remodeling is a conservative, secure, and low cost therapy that can be associated with other procedures such as enamel microabrasion and dental bleaching to achieve optimal outcome. Additionally, the Golden Proportion can be used to guide dental remodeling to improve the harmony of the smile and the facial composition. Conclusions. Thus, dentists must know and be able to treat dental aesthetic problems in cleidocranial dysplasia patients. The intention of this paper is to describe a restorative approach with the cosmetic remodeling teeth (by grinding or addicting material) associated with enamel microabrasion and dental bleaching to reestablish the form, shape, and color of smile for patients with cleidocranial dysplasia.
Empyema and respiratory failure secondary to nephropleural fistula caused by chronic urinary tract infection: a case report
Authors: G H Jones, H R Kalaher, N Misra, J Curtis, R J Parker
Journal: Case Rep Pulmonol (2012)

We report a case of nephropleural fistula causing empyema and respiratory failure in a 68-year-old gentleman with a long history of urological problems including recurrent nephrolithiasis and urinary tract infections. He was admitted with sepsis, a productive cough, pyuria, and reduced breath sounds over the left hemithorax. Radiological imaging revealed a fistulous connection between a left-sided perinephric abscess and the pleural space. He was commenced on broad spectrum intravenous antibiotics but developed progressive respiratory failure requiring intensive care admission. Urinary and pleural aspirates cultured facultative anaerobic pathogens with identical resistance patterns. Drainage of thoracic and perinephric collections was carried out, allowing him to be extubated after 24 hours and discharged home after 18 days on an extended course of oral antibiotics. Left nephrectomy is now planned after a period of convalescence. Empyema developing in patients with known urolithiasis should alert the treating physician to the possibility that a pathological communication has formed especially if typical urinary tract pathogens are cultured from respiratory sampling.
High Grade (Large Cell) Neuroendocrine Carcinoma of the Nasopharynx: Novel Case Report with Touch Preparation Cytology and Positive EBV Encoded Early RNA
Authors: Charles D Sturgis, Brian B Burkey, Suhael Momin, Aaron P Hoschar
Journal: Case Rep Pathol (2015)

Fewer than five case reports of primary large cell neuroendocrine carcinoma of the nasopharynx are known to the authors. No previous reports have included examples of cytomorphology or have proven association with Epstein-Barr virus. We herein illustrate MRI findings, histopathologic features, immunohistochemical characterization, cytologic details, and in situ hybridization studies from a unique case of primary large cell neuroendocrine carcinoma of the nasopharynx in a 38-year-old Caucasian male patient. Recognition of rare tumor types of the nasopharynx allows for refinements in disease management and prognostication.
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)
Authors: Martin Engvall, Aki Kawasaki, Valerio Carelli, Rolf Wibom, Helene Bruhn, Nicole Lesko, Florian A Schober, Anna Wredenberg, Anna Wedell, Frank Träisk
Journal: Front Neurol (2021)
Keywords: lhon, mt-nd5, case report, complex 1, leber hereditary optic neuropathy, mitochondrial dna, optic neuropathy
MeSH terms: Case Reports

Leber hereditary optic neuropathy (LHON) is a mitochondrial disease causing severe bilateral visual loss, typically in young adults. The disorder is commonly caused by one of three primary point mutations in mitochondrial DNA, but a number of other rare mutations causing or associated with the clinical syndrome of LHON have been reported. The mutations in LHON are almost exclusively located in genes encoding subunits of complex I in the mitochondrial respiratory chain. Here we report two patients, a mother and her son, with the typical LHON phenotype. Genetic investigations for the three common mutations were negative, instead we found a new and previously unreported mutation in mitochondrial DNA. This homoplasmic mutation, m.13345G>A, is located in the MT-ND5 gene, encoding a core subunit in complex I in the mitochondrial respiratory chain. Investigation of the patients mitochondrial respiratory chain in muscle found a mild defect in the combined activity of complex I+III. In the literature six other mutations in the MT-ND5 gene have been associated with LHON and by this report a new putative mutation in the MT-ND5 can be added.
Lupus Nephritis With Mild Asymptomatic Hypercalcemia in Children: A Case Report and Literature Review
Authors: Lingling Xu, Jun Zhang, Ronghui Pu, Zhihui Yue, Ying Mo, Xiaoyun Jiang
Journal: Front Pediatr (2019)
Keywords: calcium sensing receptor, children, hypercalcemia, lupus nephritis, systemic lupus erythematosus
MeSH terms: Case Reports

Lupus nephritis (LN) in Children is caused by Kidney involvement in systemic lupus erythematosus (SLE). SLE is a chronic, multi-systemic, paroxysmal autoimmune disease with a wide spectrum of autoantibodies. Hypercalcemia is a common manifestation of primary hyperparathyroidism and other malignant tumors. LN or SLE with hypercalcemia is rare. We report a case of LN with hypercalcemia and review the literature. It suggests that the pathogenesis of SLE complicated with hypercalcemia complicates the response of drug therapy.
Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA
Authors: Elizabeth M McCormick, Lawrence Kenyon, Marni J Falk
Journal: Front Genet (2015)
Keywords: des, desmin-related myopathy, mitochondrial dna depletion, mitochondrial disease, whole exome sequencing
MeSH terms: Case Reports

Desmin (DES) is a major muscle scaffolding protein that also functions to anchor mitochondria. Pathogenic DES mutations, however, have not previously been recognized as a cause of multi-systemic mitochondrial disease. Here, we describe a 45-year-old man who presented to The Children's Hospital of Philadelphia Mitochondrial-Genetics Diagnostic Clinic for evaluation of progressive cardiac, neuromuscular, gastrointestinal, and mood disorders. Muscle biopsy at age 45 was remarkable for cytoplasmic bodies, as well as ragged red fibers and SDH positive/COX negative fibers that were suggestive of a mitochondrial myopathy. Muscle also showed significant reductions in mitochondrial content (16% of control mean for citrate synthase activity) and mitochondrial DNA (35% of control mean). His family history was significant for cardiac conduction defects and myopathy in multiple maternal relatives. Multiple single gene and panel-based sequencing studies were unrevealing. Whole exome sequencing identified a known pathogenic p.S13F mutation in DES that had previously been associated with desmin-related myopathy. Desmin-related myopathy is an autosomal dominant disorder characterized by right ventricular hypertrophic cardiomyopathy, myopathy, and arrhythmias. However, neuropathy, gastrointestinal dysfunction, and depletion of both mitochondria and mitochondrial DNA have not previously been widely recognized in this disorder. Recognition that mitochondrial dysfunction occurs in desmin-related myopathy clarifies the basis for the multi-systemic manifestations, as are typical of primary mitochondrial disorders. Understanding the mitochondrial pathophysiology of desmin-related myopathy highlights the possibility of new therapies for this otherwise untreatable and often fatal class of disease. We postulate that drug treatments aimed at improving mitochondrial biogenesis or reducing oxidative stress may be effective therapies to ameliorate the effects of desmin-related disease.
First-line pembrolizumab plus androgen deprivation therapy for locally advanced microsatellite instability-high prostate cancer in a patient with Muir-Torre syndrome: A case report
Authors: Mohammad O Atiq, Danielle M Pastor, Fatima Karzai, Amy R Hankin, Baris Turkbey, Lisa M Cordes, Isaac Brownell, Yi Liu, Gregory T Chesnut, Ravi A Madan
Journal: Front Oncol (2023)
Keywords: muir-torre syndrome, androgen deprivation therapy (adt), immune checkpoint inhibitor, immunotherapy, lynch syndrome, microsatellite instability (msi), mismatch repair genes, prostate cancer
MeSH terms: Case Reports

The risks of development of colorectal and endometrial cancers in individuals with Lynch syndrome (LS) are well known and have been widely studied. In recent years, the potential association of other malignancies, including prostate cancer, with LS has been considered. Decision-making regarding screening for prostate cancer in the generalized population can be complicated; accounting for the possibility of a higher risk of cancer conferred by a potential genetic predisposition confounds the creation of salient guidelines even further. Although tissue-agnostic treatment approvals have been granted to several immune checkpoint inhibitors (ICIs) for their use in the treatment of subsets of patients whose tumors exhibit high levels of microsatellite instability or high tumor mutational burden, a paucity of data exists regarding the use of ICIs in the first line treatment of patients with locally advanced prostate cancer harboring these features. A significant reduction in tumor volume in response to the combination of immune checkpoint inhibition and androgen deprivation therapy is described in this report of a male with Muir-Torre syndrome who was found to have locally advanced adenocarcinoma of the prostate. While anecdotal, the anti-tumor activity of this combination of therapy is notable and calls attention to the importance of considering further investigation of the use of immune checkpoint blockade as a primary therapeutic option in patients with localized prostate cancer.
A Rare Case of Progressive Palsy of the Lower Leg during Percutaneous Endoscopic Lumbar Discectomy via a Transforaminal Approach
Authors: Hiroaki Manabe, Kosaku Higashino, Kosuke Sugiura
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Percutaneous endoscopic discectomy (PED) for lumbar disc herniation is gaining popularity with the transforaminal (TF) approach preferred because it allows surgery under local anesthesia and preserves the spinal muscles. Although this procedure has some characteristic complications, it is rare for PED to be converted to conventional open surgery due to worsening of symptoms intraoperatively. Here, we report PED via the TF approach that required conversion to open surgery. A 20-year-old man with a large disc herniation at L3/4 developed severe progressive leg pain and muscle weakness of the left leg intraoperatively. Magnetic resonance imaging revealed that the size of the herniation was unchanged and the endoscope did not reach the herniated mass. We converted to open surgery, and the patient's postoperative course was favorable. We discuss the reasons for failure of the approach and suggest planning for an appropriate foraminoplasty to avoid the potential need for conversion to open surgery.
Recurrence of Solid Pseudopapillary Tumor: A Rare Pancreatic Tumor
Authors: Chandra Punch, Nupur Garg, Penelope Harris
Journal: Case Rep Oncol Med (2016)

Solid pseudopapillary tumor of the pancreas (SPTP) is a rare disease of young females that does not usually recur after resection. Here we report a case of an elderly female with history of SPTP ten years ago who presented with anorexia and a palpable left lower quadrant abdominal mass. Imaging revealed metastatic disease and US-guided biopsy of the liver confirmed the diagnosis of SPTP. Due to her advanced age and comorbidities, she elected to undergo hospice care. The objective of this case report is to increase awareness of this tumor and its possibility of recurrence, necessitating further guidelines for follow-up.
Expanding the horizons of endoscopic ultrasound: diagnosis of non-digestive pathologies
Authors: Georgios Mavrogenis, Hocine Hassaini, Alain Sibille, Sofia Feloni, Pierre H Deprez, Cédric Gillain, Philippe Warzée
Journal: Gastroenterol Rep (Oxf) (2014)
Keywords: endoscopic ultrasound, aortic aneurysm, cardiac failure, pneumonia, pulmonary embolism, renal tumor, thyroid cyst
MeSH terms: Case Reports

Endoscopic ultrasound (EUS) is mainly used for the evaluation and sampling of mediastinal and abdominal lymph nodes, luminal and submucosal lesions of the upper and lower gastrointestinal tract, as well as in the diagnostic approach for pancreatic, biliary and liver disease. However, several non-digestive pathologies may be encountered as well, expanding the diagnostic potential of EUS. In this article, we present nine examples of extra-digestive abnormalities detected by means of EUS, including pathologies of the thyroid gland, mediastinal and abdominal vessels, lungs, kidney and the urinary bladder. The purpose of this article is to review the capabilities of EUS beyond routine evaluation of gastrointestinal organs.