OpenMed/multicare-articles huggingface dataset:
Three Prospective Case Studies Examining Mifepristone's Efficacy in Patients with Treatment-Resistant PTSD
Authors: Agnes van Minnen, Lizelotte Vos, Pierre M Bet, Ad de Jongh, Felix Linsen, Hein J F van Marle, Onno C Meijer, Willem M Otte, Marije Russcher, Christiaan H Vinkers
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

Despite the availability of various treatment approaches for patients with posttraumatic stress disorder (PTSD), some patients do not respond to these therapies, and novel treatment approaches are needed. This study investigated the efficacy of mifepristone, a glucocorticoid receptor antagonist, in treatment-resistant PTSD patients. Three patients with PTSD who were resistant to standard psychological and pharmacological treatments were prescribed mifepristone (600-1,200 mg/day) for 1 week. A baseline-controlled single-case design was used, involving a 2-week baseline phase (no intervention), a 1-week intervention phase (mifepristone), and a 2-week postintervention phase. The primary outcome measure, self-reported PTSD symptom severity (PCL-5), was assessed daily, with participants providing their own control condition. Two of the three patients experienced a significant reduction in PTSD symptom severity after the intervention phase and no longer met the diagnostic criteria for PTSD. These positive results were maintained during long-term follow-up. These findings support the potential effectiveness of mifepristone in the treatment of patients with treatment-resistant PTSD. However, our findings must be interpreted with caution, and further studies with larger sample sizes and more rigorous designs are necessary to confirm the promising results.
MPIG6B Gene-Related Myelofibrosis: A Rare Inherited Disease That Is Frequently Described in Arab Population
Authors: Leen Jihad Attar, Almothana Alelaimat, Alaa Alshorman, Tariq N Aladily
Journal: Avicenna J Med (2024)
Keywords: mpig6b, anemia, hepatosplenomegaly, myelofibrosis, thrombocytopenia
MeSH terms: Case Reports

The megakaryocyte and platelet inhibitory receptor gene G6P (MPIG6B) is located on chromosome 6p21.33. It encodes G6b-B; an inhibitory receptor expressed on the surface of platelets. It regulates platelets production, aggregation, and activation. We describe a case of a 31-year-old man who presented with a long history of thrombocytopenia, anemia, and hepatosplenomegaly. The patient received multiple blood transfusions and his clinical course was stable. A bone marrow biopsy showed morphologic features similar to primary myelofibrosis. Whole exome sequencing study was performed and revealed homozygous pathogenic mutation in exon 2 of MPIG6B gene (c.324C > A, p.Cys108Ter) that is the second reported case in literature. In this report, we describe the main clinical and pathologic features of this disease and review the literature of previously documented cases.
Long-Term Survival After Definitive Concurrent Chemoradiation Therapy for Synchronous Small Cell Neuroendocrine Carcinoma of the Urinary Bladder and Adenocarcinoma of the Prostate: A Case Report
Authors: Michael T Hsieh, Richard Tustin, Tue Le, Abdul Rahim Mohd Tahir, Thomas P Shakespeare
Journal: Cureus (2024)
Keywords: concurrent chemoradiation therapy, concurrent chemoradiotherapy, definitive radiotherapy, muscle-invasive bladder cancer, poorly differentiated neuroendocrine carcinoma, prostate adenocarcinoma (pca), prostate cancer, small cell bladder carcinoma, small cell carcinomas, synchronous primary cancers
MeSH terms: Case Reports

Available reports of synchronous prostate and bladder cancer have exclusively described radical cystoprostatectomy with or without perioperative chemotherapy as the treatment of choice. There are no reports of curative intent or definitive chemoradiation therapy for synchronous primary bladder and primary prostate cancers. Small cell carcinoma of the bladder is a rare and aggressive tumor. We present the first case of synchronous mixed small cell carcinoma and urothelial carcinoma of the urinary bladder and adenocarcinoma of the prostate in a 70-year-old male who attained long-term survival after curative intent and definitive concurrent chemoradiotherapy with minimal acute and late toxicities. The patient remained alive and disease-free at 41 months post-treatment and achieved excellent functional outcomes with organ preservation. Definitive chemoradiation therapy offers a safe and effective, curative-intent organ preservation treatment for localized synchronous prostate and bladder cancers.
An unusual occurrence of multiple primary malignant neoplasms: a case report and narrative review
Authors: Rawand Qasim Salhab, Zeina Ihab Ghazaleh, Wadee Barbarawi, Riyad Salah-Aldin, Hani Hour, Raghad Sweity, Izzeddin A Bakri
Journal: Front Oncol (2024)
Keywords: basosquamous carcinoma, clear renal cell carcinoma, hepatocellular carcinoma, multidisciplinary team, multiple primary malignant neoplasms, prostatic adenocarcinoma
MeSH terms: Case Reports

Introduction:
Multiple primary malignant neoplasms (MPMNs) are cancers presenting distinct pathological types that originate from different tissues or organs. They are categorized as either synchronous or metachronous. Nowadays, the incidence of MPMN is increasing.
Patients and methods:
We present a case of a 71-year-old male patient with a medical history of hepatitis B and a family history of breast and endometrial cancers. The patient reported a nasal tip skin lesion with recurrent bleeding, and the history disclosed lower urinary tract symptoms. Further investigations revealed the coexistence of four primary cancers: basosquamous carcinoma of the nasal lesion, prostatic adenocarcinoma, hepatocellular carcinoma, and clear cell renal cell carcinoma.
Results:
A multidisciplinary team cooperated to decide the proper diagnostic and therapeutic modules.
Conclusion:
To the best of our knowledge, the synchronization of these four primary cancers has never been reported in the literature. Even so, multiple primary malignant neoplasms, in general, are no longer a rare entity and need proper explanations, a precise representation of definition and incidence, further work-up approaches, and treatment guidelines as well.
Leukemic conversion involving RAS mutations of type 1 CALR-mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report
Authors: Petruta Gurban, Cristina Mambet, Anca Botezatu, Laura G Necula, Ana I Neagu, Lilia Matei, Ioana M Pitica, Saviana Nedeianu, Mihaela Chivu-Economescu, Coralia Bleotu, Marius Ataman, Gabriela Mocanu, Carmen Saguna, Anca G Pavel, Danae Stambouli, Elise Sepulchre, Gabriela Anton, Carmen C Diaconu, Stefan N Constantinescu
Journal: Front Oncol (2023)
Keywords: nras, acquired uniparental disomy (aupd), case report, hepatitis c virus (hcv) cirrhosis, primary myelofibrosis (pmf), targeted next-generation sequencing (ngs), type 1 calreticulin (calr)
MeSH terms: Case Reports

Somatic frameshift mutations in exon 9 of calreticulin (CALR) gene are recognized as disease drivers in primary myelofibrosis (PMF), one of the three classical Philadelphia-negative myeloproliferative neoplasms (MPNs). Type 1/type 1-like CALR mutations particularly confer a favorable prognostic and survival advantage in PMF patients. We report an unusual case of PMF incidentally diagnosed in a 68-year-old woman known with hepatitis C virus (HCV) cirrhosis who developed a progressive painful splenomegaly, without anomalies in blood cell counts. While harboring a type 1 CALR mutation, the patient underwent a leukemic transformation in less than 1 year from diagnosis, with a lethal outcome. Analysis of paired DNA samples from chronic and leukemic phases by a targeted next-generation sequencing (NGS) panel and single-nucleotide polymorphism (SNP) microarray revealed that the leukemic clone developed from the CALR-mutated clone through the acquisition of genetic events in the RAS signaling pathway: an increased variant allele frequency of the germline NRAS Y64D mutation present in the chronic phase (via an acquired uniparental disomy of chromosome 1) and gaining NRAS G12D in the blast phase. SNP microarray analysis showed five clinically significant copy number losses at regions 7q22.1, 8q11.1-q11.21, 10p12.1-p11.22, 11p14.1-p11.2, and Xp11.4, revealing a complex karyotype already in the chronic phase. We discuss how additional mutations, detected by NGS, as well as HCV infection and antiviral therapy, might have negatively impacted this type 1 CALR-mutated PMF. We suggest that larger studies are required to determine if more careful monitoring would be needed in MPN patients also carrying HCV and receiving anti-HCV treatment.
Making invisible care visible. Ethics and aesthetics of care in participatory arts practices in times of COVID-19
Authors: L de Kock, B C Groot, J Lindenberg, G Struiksma, T A Abma
Journal: Res Drama Educ (2023)
Keywords: covid-19, ethics of care, aesthetics of care, older people, participatory art

The COVID-19 pandemic emphasises the importance of care for our societies, yet underscores the inferiority of relational caring practices. During this time, we studied the participatory work of artists working with older adults using participant observations, in-depth interviews and visual ethnography. In this article, we present a case study of one arts initiative, a theatre company engaging seniors in the Netherlands, using ethics and aesthetics of care as sensitising concepts. The findings reveal that this work can promote relational forms of care. This study makes visible how different forms of care can be identified in a participatory art project.
Pedicled abdominal skin flap technique for fingers salvaging and reconstruction in a complex palmar hand burn injury: A case report
Authors: Arif Tri Prasetyo, Lisa Y Hasibuan, Muhammad Arsyad
Journal: Int J Surg Case Rep (2024)
Keywords: full-thickness burn injury, pedicled abdominal skin flaps
MeSH terms: Case Reports

Introduction and importance:
The only treatment option for full-thickness burn injury is surgical management, either skin grafting or a skin flap. Treatment may be challenging due to the multiple procedures that need to be performed and multiple factors that can affect treatment outcomes especially to do fingers reconstruction.
Case presentation:
A 25-years-old man was admitted because of a burn injury on the palm of his left hand. There are waxy and leathery appearances of burn injuries on the palm and 2nd to 5th digits of the left hand and diagnosed with a full-thickness contact burn injury and compartment syndrome. The patient underwent a pedicled abdominal skin flap followed by necrotomy, flap thinning, and digit separation as a reconstruction management.
Clinical discussion:
Pedicled abdominal skin flap is one of the best surgical techniques available for full thickness burn injury reconstruction because it is believed to regain the closest natural-looking appearance and extremity functions. Abdominal flap as random flap is safe to be divided into small part to cover the fingers.
Conclusion:
Thorough examinations and appropriate management such as pedicled abdominal skin flaps are important to perform in patients with full-thickness burn injuries.
A Case of Central Venous Catheter-Related Bacteremia Caused by Enterococcus gallinarum
Authors: Ning Xu, Lei Zhu, Liyan Xiong, Jingjing Huo, Bin Wang, Xianyan Wu, Rui Tao, Qi Sa
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

A chicken farmer with cirrhosis and renal failure presented with an unusual case of catheter-related bacteremia. Testing with the VITEK® 2 Compact system, MALDI-TOF mass spectrometry, and 16S rDNA sequencing identified the pathogen as E. gallinarum. This case demonstrates the importance of maintaining a high level of contextual awareness in patients exposed to avian species to make an informed diagnosis and provide prompt treatment.
Case report: Francisella philomiragia bacteremia in a patient with acute lymphoblastic leukemia
Authors: Dee Xi
Journal: Front Cell Infect Microbiol (2023)
Keywords: 16s rrna, francisella philomiragia, acute lymphoblastic leukemia, antibiotics, bacteremia, blood culture
MeSH terms: Bacteremia / complications, Bacteremia / diagnosis, Bacteremia / microbiology, Francisella, Precursor Cell Lymphoblastic Leukemia-Lymphoma / complications, Sepsis, Case Reports, Adult, Humans, Male, Francisella philomiragia

Francisella philomiragia is a Gram-negative coccobacillus, which is a very rare human opportunistic pathogen causing pneumonia and systemic infection. It is difficult to identify this bacterium through conventional Gram-staining and biochemical methods due to an amorphous Gram stain appearance after 24 h culture and its relatively fastidious and slow growth giving weak and/or delayed reactions in biochemical tests. It is often misidentified as other bacteria including Haemophilus spp., Pseudomonas aeruginosa, or Sphingomonas paucimobilis. False identification may delay the therapy of the patients and even endanger the patient's life. Here, we report a case of a 34-year-old man with acute lymphoblastic leukemia infected by F. philomiragia, which was almost misdiagnosed. This case describes our identification of a patient with a systemic F. philomiragia infection. To our knowledge, this is the first such case reported in China.
Two cases of unilateral limbal Vernal keratoconjunctivitis in the same family: first case report
Authors: Paola Michieletto, Attilio Sica, Egidio Barbi, Stefano Pensiero
Journal: Front Pediatr (2023)
Keywords: ige-mediated hypersensitivity, allergic asthma, first report, pediatric ophthalmology, unilateral limbal vernal keratoconjunctivitis (vkc)
MeSH terms: Case Reports

This case report describes two cases of unilateral limbal Vernal keratoconjunctivitis (VKC) in the same family. To our knowledge, these are the first two reported cases of unilateral limbal VKC. VKC is a chronic inflammatory disease that typically affects both eyes, with unilateral cases being rare and previously only reported in the tarsal form. Our first case involved a 12-year-old girl with a history of allergic asthma, who had been experiencing conjunctivitis in her right eye since the age of 7. Upon examination, she was diagnosed with unilateral limbal VKC and treated with 1% cyclosporine eye drops with a significant improvement observed at the one and three-month follow-ups. Her 7-year-old brother was also examined and found to have unilateral limbal VKC in his right eye, although it was milder and not associated with allergic pathogenesis. Therefore, in this case, a treatment with hydrocortisone eye drops was started leading to an immediate reduction of the itching. In both cases an IgE-mediated mechanism is less likely because of the monolateral eye involvement, the complete absence of nasal symptoms, the lack of correlation between symptoms and any pollen season, and the negative prick skin test in one of the two siblings. Both cases suggest that unilateral VKC may occur even in the limbal form and that genetic mechanisms may contribute to the inflammatory reaction in VKC. This report highlights the need for further studies to explain the occurrence of unilateral VKC cases and reminds clinicians to consider the possibility of unilateral limbal VKC in pediatric patients.
Application of extracorporeal membrane oxygenation in the remote transport of a patient with a ruptured sinus of Valsalva aneurysm: a case report
Authors: Xiaozu Liao, Shi Zhong, Weizhao Huang, Binfei Li
Journal: Front Surg (2024)
Keywords: ecmo, cardiopulmonary bypass (cpb), case report, sinus of valsalva aneurysm, veno-arterial extracorporeal membrane oxygenation
MeSH terms: Case Reports

Background:
A ruptured sinus of Valsalva aneurysm can lead to rapid heart failure and sudden cardiac death. Management of patients who develop severe heart failure and need to be transferred to a specialized hospital for surgical treatment can be challenging. In patients with severe shock due to a ruptured sinus of Valsalva aneurysm into the right atrium, extracorporeal membrane oxygenation (ECMO) transport is an effective means to ensure patient safety, but increases the right cardiac load. We report the experience of veno-arterial (VA) ECMO transport in the treatment of acute cardiogenic shock caused by rupture of a congenital sinus of Valsalva aneurysm.
Case presentation:
We describe the case of an 18-year-old male who began having acute episodes of chest pain, shortness of breath, palpitations, and dizziness 18 h before presenting to the emergency department. An echocardiogram revealed an acute ruptured sinus of Valsalva aneurysm and a shunt to the right atrium. The patient presented with severe shock. VA-ECMO was administered to ensure safe transport to the cardiac center. The outcome of emergency surgical repair was good. The patient was on ECMO for 8 h. He returned to the general ward after 7 days and was successfully discharged after 40 days. He had good exercise tolerance 2 years after surgery and no evidence of heart failure.
Conclusion:
Although ECMO transport can increase right cardiac load, it is an effective and safe method to move patients with severe shock caused by a ruptured sinus of Valsalva aneurysm into the right atrium. Methods to decrease right cardiac load, such as decreasing ECMO flow combined with cardiotonic drugs, should be adopted. Successful treatment involves rapid establishment of cardiopulmonary bypass and urgent repair of the ruptured sinus of Valsalva aneurysm.
Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report
Authors: Rie Tsuburaya-Suzuki, Sachiko Ohori, Kohei Hamanaka, Atsushi Fujita, Naomichi Matsumoto, Masako Kinoshita
Journal: Front Genet (2024)
Keywords: cfc syndrome, map2k1, cardiofaciocutaneous syndrome, drug-induced hypersensitivity syndrome, epilepsy, neurodevelopmental disorders
MeSH terms: Case Reports

Cardiofaciocutaneous syndrome (CFC) is a rare genetic disorder that presents with cardiac, craniofacial, and cutaneous symptoms, and is often accompanied by neurological abnormalities, including neurodevelopmental disorders and epilepsy. Regarding epilepsy in CFC, the onset of seizures commonly occurs in childhood. Since research data has mainly been collected from young patients with relatively short observation period, there is insufficient information regarding adult-onset epilepsy in CFC. Here, we report the long-term clinical course of epilepsy and other complications in a 45-year-old female with genetically confirmed CFC carrying a pathogenic de novo heterozygous variant of MAP2K1, c.389 A>G (p.Tyr130Cys). The patient presented psychomotor delay from infancy and had severe intellectual disability with autistic features. At the age of 30, she first developed combined generalized and focal epilepsy that was resistant to anti-seizure medication. Her refractory epilepsy was fairly controlled with a combination of three anti-seizure medications, especially lacosamide, which effectively suppressed both generalized and focal seizures. The present case provides detailed information regarding the clinical course and treatment of adult-onset epilepsy, which may be useful for optimal treatment and prognostic prediction of CFC.
Lacrimal Drainage System and Nasal Cavity Melanoma after Complete Treatment of Conjunctival Melanoma
Authors: Amirreza Veisi, Zahra Dastborhan, Mohsen Dastmardi, Mozhgan Rezaie Kanavi, Saeid Rezaei
Journal: Case Rep Ophthalmol Med (2024)
MeSH terms: Case Reports

Malignant melanoma of the conjunctiva is a rare tumor of the ocular surface with potential fatal consequences and a high likelihood of recurrence. Although routes for extending the tumor, including local, hematogenous, and lymphatogenous, are pretty straightforward, the indirect extension through free-floating tumoral cells to the nasolacrimal duct is not described thoroughly. We report a case of malignant melanoma of the conjunctiva which presented with local recurrence in the intranasal cavity and lacrimal sac two years after the primary surgery (without involvement of the ocular surface and punctum on the second occasion). However, there was no evidence of distant metastasis on either occasion. This case demonstrates the possible noncontiguous spreading route of melanoma tumoral cells and highlights the need for attention to the surgical technique, and careful follow-up to detect further disease activity.
Bilateral tonic seizures probably induced by eperisone hydrochloride: a case report
Authors: Long Luo, Jun Yin, Zhigang Li, Wei Zhang, Ying Yuan, Ying Tang, Ye Deng, Ling Zhu
Journal: Front Neurol (2023)
Keywords: case report, drug, eperisone hydrochloride, muscle relaxant, seizures, tonic
MeSH terms: Case Reports

Eperisone hydrochloride is a central muscle relaxant used to treat osteoporosis. Seizures are rare side effects of eperisone hydrochloride and have been previously reported in the medical literature in overdose situations but not at regular doses. This case report describes a 42-year-old male painter who developed severe bilateral tonic seizures after the initiation of eperisone hydrochloride at regular doses for low back pain. Symptoms gradually eased in the days following the discontinuation of eperisone hydrochloride and antiepileptic treatment, with no recurrence. This rare adverse drug reaction warrants clinical awareness; however, the mechanisms underlying these adverse reactions remain to be clarified.
Delayed Irreversible Fanconi Syndrome Associated With Vertebral Fracture After Tenofovir Discontinuation
Authors: Ghofran N Qorban, Jameelah Alyami, Shaza Samargandy, Tariq A Madani
Journal: Cureus (2024)
Keywords: bone mineral density (bmd), human immunodeficiency virus (hiv), osteoporotic fractures, tenofovir alafenamide (taf), tenofovir disoproxil fumarate (tdf)
MeSH terms: Case Reports

The use of tenofovir disoproxil fumarate (TDF) as an antiretroviral agent has been reported to adversely affect both renal tubules and bone health, leading to pathological fractures. While such an effect is largely reversible, substituting TDF with tenofovir alafenamide (TAF) might result in lower rates of adverse events with the preservation of tenofovir effectiveness. We report a case of a 40-year-old lady with HIV infection who had a vertebral fragility fracture secondary to TDF-associated Fanconi syndrome. The syndrome developed four years after TDF cessation and switching to TAF. Other etiologies for decreased bone mass were excluded, and the diagnosis of Fanconi syndrome was established based on her bone mineral density (BMD) and urine parameters. She was treated conservatively with active vitamin D, calcium, and progesterone/estrogen combination, but her phosphate wasting persisted despite switching to TAF; this likely represents a delayed irreversible effect of TDF on the patient's bone remodeling. This case report highlights the chronic sequelae of TDF therapy and the importance of monitoring for and early detection of renal tubulopathy and osteoporotic fractures in this patient population.