OpenMed/multicare-articles huggingface dataset:
A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review
Authors: Tingwei Song, Yuwen Zhao, Guo Wen, Juan Du, Qian Xu
Journal: Front Neurol (2023)
Keywords: case report, literature review, migraine, novel myorg mutation, primary familial brain calcification
MeSH terms: Case Reports

Primary familial brain calcification (PFBC) is a disorder in which pathologic calcification of the basal ganglia, cerebellum, or other brain regions with bilateral symmetry occurs. Common clinical symptoms include dysarthria, cerebellar symptoms, motor deficits, and cognitive impairment. Genetic factors are an important cause of the disease; however autosomal recessive (AR) inheritance is rare. In 2018, the myogenesis-regulated glycosidase (MYORG) gene was the first to be associated with AR-PFBC. The present case is a 24-year-old woman with AR-PFBC that presented with migraine at the age of 16 years. Symmetrical patchy calcifications were seen in the bilateral cerebellopontine nuclei, thalamus, basal ganglia, and radiocoronal area on computed tomography and magnetic resonance imaging. AR-PFBC with migraine as the main clinical symptom is rare. Whole-exome sequencing revealed a compound heterozygous mutation in the MYORG gene, one of which has not been previously reported. Our case highlights the pathogenic profile of the MYORG gene, and demonstrates the need for exclusion of calcium deposits in the brain for migraine patients with AR inheritance.
Case report: Amnestic mild cognitive impairment in multiple domains associated with neurofascin 186 autoantibodies: Case series with follow-up and review
Authors: Niels Hansen, Anne Sagebiel, Kristin Rentzsch, Sina Hirschel, Jens Wiltfang, Björn H Schott, Bartels Claudia
Journal: Front Psychiatry (2023)
Keywords: autoantibody, autoimmunity, cognition, mild cognitive impairment, neurofascin 186 antibody
MeSH terms: Case Reports

Background:
Neurofascin 186 autoantibodies are known to occur with a diseased peripheral nervous system. Recently, also additional central nervous system (CNS) involvement has been reported in conjunction with neurofascin 186 autoantibodies. Our case enlarges the spectrum of neurofascin 186 antibody-related disease to include mild cognitive impairment (MCI).
Methods:
We report here a case after having examined the patient files retrospectively, including diagnostics such as blood and cerebrospinal fluid (CSF) analysis involving the determination of neural autoantibodies, brain magnetic resonance imaging (MRI), brain fluorodesoxyglucose positron emission tomography (FDG-PET), and extensive neuropsychological testing.
Results:
We report on two patients with MCI. Brain MRI showed cerebral microangiopathy in both patients, but brain FDG-PET demonstrated pathology in the right prefrontal cortex, in the right inferior parietal cortex, and in both lateral occipital cortices in one patient. Neurofascin 186 antibodies were detected in serum in both patients, and neurofascin 186 autoantibodies were also detected in the CSF of one of these patients. At follow-up six month later, neurofascin 186 autoantibodies disappeared in one patient while persisting in the other.
Conclusion:
We report on two individuals presenting MCI associated with neurofascin 186 antibodies, thus expanding the potential spectrum of neurofascin 186-associated disease. This report supports the recommendation to consider also neurofascin 186 autoantibodies in not just peripheral nerve disease, but also in disorders involving CNS autoimmunity. More studies are needed to clarify the lack of association between neurofascin 186 autoantibodies and cognitive decline.
Novel AGL variants in a patient with glycogen storage disease type IIIb and pulmonary hypertension caused by pulmonary veno-occlusive disease: A case report
Authors: Akito Shindo, Kazutaka Ueda, Shun Minatsuki, Yukiteru Nakayama, Satoshi Hatsuse, Kanna Fujita, Seitaro Nomura, Masaru Hatano, Norifumi Takeda, Hiroshi Akazawa, Issei Komuro
Journal: Front Genet (2023)
Keywords: agl, pvod, glycogen storage disease, pulmonary hypertension, pulmonary veno-occlusive disease
MeSH terms: Case Reports

Glycogen storage disease type III (GSD-III) is an autosomal recessive metabolic disorder caused by mutations in the AGL gene, and may develop various types of pulmonary hypertension (PH). Here, we report a case of 24-year-old man with GSD-IIIb with two novel null variants in AGL (c.2308 + 2T>C and c.3045_3048dupTACC). He developed multi-drug-resistant pulmonary veno-occlusive disease (PVOD) and was registered as a candidate for lung transplantation. No pathogenic variants were detected in previously known causative genes for pulmonary hypertension and the underlying mechanism of coincidence of two rare diseases was unknown. We discuss the association of the loss of glycogen-debranching enzyme with incident PVOD.
A Novel Technique for Laparoscopic Salvage of CAPD Catheter Malfunction and Migration: The Santosh-PGI Hanging Loop Technique
Authors: Santosh Kumar, Shivanshu Singh, Aditya Prakash Sharma, Manish Rathi
Journal: Case Rep Nephrol (2015)

CAPD catheter malfunction is a common problem. Obstruction due to wrapping by appendices epiploicae of sigmoid colon has been rarely reported in literature. We report a case of CAPD catheter malfunction caused by catheter tip migration and obstruction by appendices epiploicae that was successfully managed by laparoscopic hanging loop technique. This case report highlights the ease with which epiplopexy can be performed and catheter tip migration can be prevented by this innovative laparoscopic procedure.
Psychosis Crisis Associated with Thyrotoxicosis due to Graves' Disease
Authors: Lilibet Urias-Uribe, Emmanuel Valdez-Solis, Claudia González-Milán, Claudia Ramírez-Rentería, Aldo Ferreira-Hermosillo
Journal: Case Rep Psychiatry (2017)
MeSH terms: Case Reports

We present the case of a patient with previous psychiatric illness, acutely exacerbated by thyroid storm due to Graves' disease, in whom treatment with antipsychotics induced catatonia. These associations are extremely rare and may be confused with Hashimoto's encephalopathy, especially in the presence of anti-thyroid antibodies in cerebrospinal fluid. The treatment consists in the control of the triggering disease (in this case the resolution of the thyrotoxicosis) and the use of benzodiazepines. However, in some cases, the resolution of psychiatric symptoms is partial and may require the use of electroconvulsive therapy.
Counting-based cell-free DNA screening test fails to identify triploidy-A case report
Authors: Ji E Park, Ji K Park, Min Y Kang, In A Cho, Jong C Baek
Journal: Clin Case Rep (2018)
Keywords: 69,xxx, noninvasive prenatal testing, ultrasound
MeSH terms: Case Reports

Although noninvasive prenatal testing (NIPT) is a good test with high sensitivity and specificity for trisomy 21, 18, and 13, it remains a screening test and cannot be used for diagnostic purposes. It is important to consider the outcomes of this test and interpret the results and offer consultation accordingly.
Immune checkpoint inhibitor-induced aplastic anaemia: Case series and large-scale pharmacovigilance analysis
Authors: Qian Guo, Jin Ning Zhao, Ting Liu, Jian Gao, Hui Guo, Jing Min Cheng
Journal: Front Pharmacol (2023)
Keywords: aplastic anaemia, data mining, food and drug administration’s adverse event reporting system, immune checkpoint inhibitors, immune-related adverse events

Introduction: Impressive advances in immunotherapy especially immune checkpoint inhibitors have made great progress in treating multiple cancers but can also cause serious even incurable immune-related adverse events, mostly found in colitis, dermatitis, hepatitis, and thyroiditis patients. Rare autoimmune hematologic toxicities have been reported in the literature, but are poorly described. Aplastic anaemia induced by immune checkpoint inhibitors is a life-threatening autoimmune disease; however, only a few cases have been reported in the literature. Objective: To characterize and evaluate Aplastic anaemia associated with different ICI regimens in public database and review the literature. Methods: We described a case series of patients experiencing Aplastic anaemia while on immune checkpoint inhibitors. We also mined the Food and Drug Administration's Adverse Event Reporting System and used reporting odds ratio, the proportional reporting ratio, the Bayesian confidence propagation neural network and the multi-item gamma Poisson shrinker algorithms to achieve the data of the suspected adverse events of Aplastic anaemia-induced by immune checkpoint inhibitors between January 2011 and June 2022. Results: Thirteen patients with Aplastic anaemia events while on immune checkpoint inhibitors were included in our case series, and seven of them had a fatal outcome. In FAERS, a total of 38 individual case safety reports (immune checkpoint inhibitors) with different ICI regimens were retrieved, of which 25 (65.79%) were reported as monotherapy and 13 (34.2%) had a fatal outcome. The reporting odds ratio was significant for nivolumab (reporting odds ratio 3.05, 95%CI 1.73-5.38), pembrolizumab (reporting odds ratio 2.33, 95%CI 1.16-4.67), avelumab (reporting odds ratio 12.63, 95%CI 3.15-50.62) and ipilimumab/nivolumab (ROR 2.57, 95%CI 1.15-5.72). Conclusion: There is a significant reporting signal of Aplastic anaemia with several ICI agents. Clinicians should raise awareness and monitor this potentially fatal adverse event.
Pneumocystis jirovecii Pneumonia in an Immunocompetent Japanese Man: A Case Report and Literature Review
Authors: Hiromi Ide, Yoshikazu Yamaji, Kazunori Tobino, Masanobu Okahisa, Kojin Murakami, Yuki Goto, Takuto Sueyasu, Saori Nishizawa, Kohei Yoshimine, Miyuki Munechika, Masafumi Oya, Yuka Hiraki
Journal: Case Rep Pulmonol (2019)
MeSH terms: Case Reports

We herein report the case of a 37-year-old immunocompetent man who died from Pneumocystis jirovecii pneumonia (PCP). He was initially treated for an acute exacerbation of interstitial pneumonia; however, the elevation of the patient's serum (1-3) β-D glucan (BG) level suggested the possibility of PCP and sulfamethoxazole trimethoprim was added. A postmortem pathological examination and retrospective Grocott's methenamine silver (GMS) staining of the bronchoalveolar lavage fluid (BALF), which was obtained on the day of admission, revealed PCP. The present case suggests that it is essential to perform a BG assay and GMS staining of BALF specimens when patients show diffuse ground-glass opacity on chest computed tomography, regardless of their immune status.
Case Report: Combination of Olaparib With Chemotherapy in a Patient With ATM-Deficient Colorectal Cancer
Authors: Georgios I Papageorgiou, Evangelos Fergadis, Nikos Skouteris, Evridiki Christakos, Sergios A Tsakatikas, Evangelos Lianos, Christos Kosmas
Journal: Front Oncol (2021)
Keywords: atm mutation, parp inhibition, case report, colorectal cancer, targeted ngs
MeSH terms: Case Reports

Poly-ADP ribose polymerase (PARP) inhibitors are constantly increasing in their indications for use as anti-cancer treatment in various neoplasms, the majority of which are linked with BRCA deficiency. Preclinical data support the investigation of PARP inhibitors in other neoplasms exhibiting "BRCAness" or homologous recombination deficiency (HRD) as monotherapy as well as in combination with chemotherapy. With the current report we present the case of a heavily pretreated 55-year-old male patient diagnosed with stage IV ATM-deficient CRC, who was effectively treated with an off-label olaparib-irinotecan combination after exhaustion of all available treatment choices; furthermore, we discuss the existing data providing evidence for the use of PARP inhibitors in ATM-deficient CRC and encourage the implementation of next-generation sequencing (NGS) in patients with no other available treatment options.
Treatment of Neisseria meningitidis prosthetic joint infections with short-course antibiotics: three cases and a literature review
Authors: Sarah Browning, Harry N Walker, Thomas Ryan, Robert Pickles, Michael Loftus, Jason A Trubiano, Andrew Hardidge, Joshua S Davis
Journal: J Bone Jt Infect (2020)
MeSH terms: Case Reports

Neisseria meningitidis is a rare cause of prosthetic joint infection (PJI), with only three cases previously reported. Here we report three further cases, all of which were successfully treated with implant retention and short-course antibiotics ( < 6 weeks).
Potential additive effects of ticagrelor, ivabradine, and carvedilol on sinus node
Authors: Luigi Di Serafino, Francesco Luigi Rotolo, Augusto Boggi, Riccardo Colantonio, Roberto Serdoz, Francesco Monti
Journal: Case Rep Cardiol (2014)

A 51-year-old male patient presented to the emergency room with an anterior ST-elevation myocardial infarction. After a loading dose of both ticagrelor and aspirin, the patient underwent primary-PCI on the left anterior descending coronary artery with stent implantation. After successful revascularization, medical therapy included beta-blockers, statins, and angiotensin II receptor antagonists. Two days later, ivabradine was also administered in order to reduce heart rate at target, but the patient developed a severe symptomatic bradycardia and sinus arrest, even requiring administration of both atropine and adrenaline. Ivabradine and ticagrelor have been then suspended and this latter changed with prasugrel. Any other similar event was not reported during the following days. This clinical case raised concerns about the safety of the combination of beta-blockers and ivabradine in patients treated with ticagrelor, particularly during the acute phase of an acute coronary syndrome. These two latter drugs, in particular, might interact with the same receptor. In fact, ivabradine directly modulates the If-channel which is also modulated by the cyclic adenosine monophosphate levels. These latter have been shown to increase after ticagrelor assumption via inhibition of adenosine uptake by erythrocytes. Further studies are warrant to better clarify the safety of this association.
Listeria monocytogenes Cerebritis and Infective Endocarditis in an Immunocompetent Adult: A Rare Clinical Manifestation
Authors: Shalini A Mohan, Zharif Sufyaan
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Cerebritis and infective endocarditis caused by Listeria monocytogenes are very rare. A 56-year-old man presented with slurring of speech and generalized body weakness of 1 week duration. He did not have any past medical history. On systemic examination, he had mild slurring of speech and facial asymmetry and was initially treated for multifocal chronic cerebral infarcts. Listeria monocytogenes was isolated from blood culture on day 5 of admission. A diagnosis of neurolisteriosis was made as contrast-enhanced-computed tomography (CECT) of the brain showed right frontal cerebritis. He was treated with intravenous benzyl penicillin. His general condition was improving until day 13 of hospitalization whereby he developed haemoptysis and severe Type 1 respiratory failure requiring reintubation. An urgent transthoracic echocardiogram revealed a large vegetation at the anterior mitral valve leaflet measuring 2.01 cm. No active arterial bleeding was seen on computed tomography angiography (CTA) of the thorax. Magnetic resonance imaging (MRI) of the brain showed evidence of right frontal cerebritis. He continued to deteriorate and succumbed to his illness after 3 weeks of hospitalization. Clinicians should be aware of such an occurrence and prompt recognition and adequate treatment are necessary in cases of Listeria monocytogenes cerebritis and infective endocarditis as both are deadly entities.
Psoriatic Arthritis and Nail Psoriasis in a Patient with Concomitant Atopic Dermatitis
Authors: Gerhard Eichhoff, Noriko Soffi Harun
Journal: Case Rep Dermatol Med (2018)
MeSH terms: Case Reports

Coincidence of psoriasis and atopic dermatitis (AD) is considered to be very rare, as a result of the different underlying immunopathology. This case report describes a patient with long history of atopy and AD who developed psoriatic nail changes and psoriatic arthritis (PsA). The patient's skin, however, revealed only eczematous lesions without manifestation of psoriasis.
Boron neutron capture therapy with bevacizumab may prolong the survival of recurrent malignant glioma patients: four cases
Authors: Shin-Ichi Miyatake, Shinji Kawabata, Ryo Hiramatsu, Motomasa Furuse, Toshihiko Kuroiwa, Minoru Suzuki
Journal: Radiat Oncol (2014)
MeSH terms: Antibodies, Monoclonal, Humanized / therapeutic use, Antineoplastic Agents / therapeutic use, Boron Neutron Capture Therapy, Brain Neoplasms / therapy, Glioma / therapy, Neoplasm Recurrence, Local / therapy, Case Reports, Research Support, Non-U.S. Gov't, Adult, Bevacizumab, Brain Neoplasms / mortality, Chemoradiotherapy, Female, Glioma / mortality, Humans, Male, Middle Aged, Neoplasm Recurrence, Local / mortality, Survival, Antibodies, Monoclonal, Humanized, Antineoplastic Agents, Bevacizumab

Background and importance:
Recurrent malignant gliomas (RMGs) are very difficult to control, and no standard treatments have been established for them. We performed boron neutron capture therapy (BNCT) for patients with RMG. BNCT enables high-dose particle radiation to be applied selectively to tumor cells. However, RMG cases generally receive nearly 60 Gy X-ray irradiation prior to re-irradiation by BNCT. Therefore, even with tumor-selective particle radiation BNCT, radiation necrosis in the brain and symptomatic pseudoprogression may develop. In four of our recent patients with RMG after BNCT, we applied the anti-VEGF antibody bevacizumab to treat two pathological entities. This approach appeared to prolong survival. Here we present the case reports of these four consecutive patients with RMG and discuss the novel use of bevacizumab in this context.
Clinical presentation:
Four patients with RMGs were treated with BNCT at our institutes. Upon the referral for BNCT, they were assessed as belonging to the recursive partitioning analysis (RPA) class 3 (n = 3 patients) or RPA class 4 (n = 1 patient) (the RPA classification for RMG was advocated by Carson et al. in 2007). The estimated median survival times for RPA classes 3 and 4 were 3.8 and 10.8 months, respectively, after some treatment at the recurrence. We applied BNCT for these four patients and administered bevacizumab when the lesions were considered radiation necrosis or symptomatic pseudoprogression. The class 3 patients survived after the BNCT for 14, 16.5 and > 23 months, and the class 4 patient survived > 26 months, with favorable improvements in clinical symptoms.
Conclusion:
BNCT with the addition of bevacizumab for radiation necrosis or symptomatic pseudoprogression improved the clinical symptoms and prolonged the survival in RMG patients.
A rare cause of esophageal stenosis: Compression due to a thoracic osteophyte
Authors: Suguru Miida, Yoshihisa Arao, Nobutaka Takeda, Shu Goto, Yuichi Kojima, Naruhiro Kimura, Kazunao Hayashi, Atsunori Tsuchiya, Shuji Terai
Journal: DEN Open (2023)
Keywords: endoscopy, endosonography, esophageal perforation, esophageal stenosis, osteophyte
MeSH terms: Case Reports

Several cases of esophageal stenosis caused by cervical vertebral osteophytes have been reported; however, few reports of esophageal stenosis caused by thoracic osteophytes are available. We describe the case of an 86-year-old man with esophageal stenosis caused by a thoracic osteophyte near the tracheal bifurcation. An endoscopic ultrasonography examination was scheduled to determine the cause of acute pancreatitis; however, lacerations observed at the bifurcation following endoscope removal during prior esophagogastroduodenoscopy led us to cancel the ultrasonography to avoid potential esophageal perforation. A review of the present case and six similar previous cases of thoracic osteophyte-associated esophageal stenosis (identified via a systematic search of the PubMed database) demonstrated the clinical importance of a thoracic osteophyte near physiological esophageal stenosis. Esophagogastroduodenoscopy and computed tomography should be performed to screen for vertebral osteophytes before endoscopic ultrasonography, endoscopic retrograde cholangiopancreatography, and transesophageal echocardiography to avoid iatrogenic accidents.
Pregnancy outcome after varenicline exposure in the first trimester
Authors: Yusuf Cem Kaplan, Nihal Olgac Dündar, Burcu Kasap, Barıs Karadas
Journal: Case Rep Obstet Gynecol (2014)

To the best of our knowledge this is the first case report describing exposure to varenicline, an α 4 β 2 nicotinic acetylcholine partial receptor agonist used for smoking cessation therapy in pregnancy. A 29-year-old multiparous woman with an unplanned pregnancy has used varenicline 2 mg/day unintentionally yet regularly 4 weeks from her last menstrual period. Fetal ultrasound performed at each trimester, detailed anomaly scan, and fetal echocardiography which were performed at the 22nd gestational week showed normal fetal growth with no malformations. The patient delivered a healthy baby at the 38th week of gestation with normal Apgar score and physical examination findings. Age-appropriate physical and neurological development of the child has been observed for 6 months. Although it is not possible to draw definitive conclusions, this case report may contribute to the current available limited data regarding the safety of varenicline use in pregnancy.
Aesthetic Surgical Approach for Bone Dehiscence Treatment by Means of Single Implant and Interdental Tissue Regeneration: A Case Report with Five Years of Follow-Up
Authors: Giorgio Lombardo, Jacopo Pighi, Giovanni Corrocher, Anna Mascellaro, Jeffrey Lehrberg, Mauro Marincola, Pier Francesco Nocini
Journal: Case Rep Dent (2016)

The replacement of single anterior teeth by means of endosseous implants implies the achievement of success in restoring both aesthetic and function. However, the presence of wide endoperiodontal lesions can lead to horizontal hard and soft tissues defects after tooth extraction, making it impossible to correctly place an implant in the compromised alveolar socket. Vertical augmentation procedures have been proposed to solve these clinical situations, but the amount of new regenerated bone is still not predictable. Furthermore, bone augmentation can be complicated by the presence of adjacent teeth, especially if they bring with them periodontal defects. Therefore, it is used to restore periodontal health of adjacent teeth before making any augmentation procedures and to wait a certain healing period before placing an implant in vertically augmented sites, otherwise risking to obtain a nonsatisfactory aesthetic result. All of these procedures, however, lead to an expansion of treatment time which should affect patient compliance. For this reason, this case report suggests a surgical technique to perform vertical bone augmentation at a single gap left by a central upper incisor while placing an implant and simultaneously to regenerate the periodontal attachment of an adjacent lateral incisor, without compromising the aesthetic result.