OpenMed/multicare-articles huggingface dataset:
Whole-Exome Sequencing Identified a De Novo Mutation of Junction Plakoglobin (p.R577C) in a Chinese Patient with Arrhythmogenic Right Ventricular Cardiomyopathy
Authors: Lv Liu, Chan Chen, YaLi Li, Rong Yu
Journal: Biomed Res Int (2019)
MeSH terms: Arrhythmogenic Right Ventricular Dysplasia / genetics, Asian People / genetics, Exome Sequencing, Mutation / genetics, Case Reports, Amino Acid Sequence, Base Sequence, Cell Line, Connexin 43 / genetics, Connexin 43 / metabolism, Desmoglein 2 / genetics, Desmoglein 2 / metabolism, Desmosomes / metabolism, Humans, Male, Young Adult, gamma Catenin / chemistry, gamma Catenin / genetics, Connexin 43, DSG2 protein, human, Desmoglein 2, JUP protein, human, gamma Catenin

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare and potentially life-threatening disorder of the heart. The clinical spectrum of ARVC includes myocyte loss and fibro-fatty tissue replacement. With the progress of ARVC, the patient can present serious ventricular arrhythmias, heart failure, and even sudden cardiac death. Previous studies have demonstrated that desmosomes and intermediate junctions play a crucial role in the generation and development of ARVC. In this study, we enrolled a Chinese patient with suspicious ARVC. The patient suffered from right ventricular enlargement and less thickening of right ventricular wall. ECG record showed an epsilon wave. However, there was no obvious symptom in his parents. After whole-exome sequencing and data filtering, we identified a de novo mutation (c.1729C>T/p.R577C) of junction plakoglobin (JUP) in this patient. Bioinformatics programs predicted that this mutation was deleterious. Western blot revealed that, compared to cells transfected with WT plasmids, the expressions of desmoglein 2 (DSG2) and Connexin 43 were decreased overtly in cells transfected with the mutant plasmid. Previous studies have proven that the reduction of DSG2 and Connexin 43 may disturb the stability of desmosomes. In this research, we reported a novel de novo mutation (c.1729C>T/p.R577C) of JUP in a Chinese patient with suspicious ARVC. Functional research further confirmed the pathogenicity of this novel mutation. Our study expanded the spectrum of JUP mutations and may contribute to the genetic diagnosis and counseling of patients with ARVC.
A case of intrasplenic displacement of an endoscopic double-pigtail stent as a treatment for laparoscopic sleeve gastrectomy leak
Authors: Michele Marchese, Lucia Romano, Antonio Giuliani, Giovanni Cianca, Alessandra Di Sibio, Francesco Carlei, Gianfranco Amicucci, Mario Schietroma
Journal: Int J Surg Case Rep (2018)
Keywords: case report, gastric leak, internal drainage, intrasplenic migration, pigtail

Introduction:
The most frequent and severe complication after laparoscopic sleeve gastrectomy is gastric leak. Nowadays, there is no specific standard recommendation for its management, but the endoscopic placement of a double-pigtail drain across the leak has been proven to be effective and minimally invasive. Stent displacement into the abdominal cavity is not common and intrasplenic migration is even more rare.
Case presentation:
We report a case of a 49-year-old woman with intrasplenic displacement of an endoscopic double-pigtail stent as a treatment for laparoscopic sleeve gastrectomy leak.
Discussion:
Pigtail drain migration involving the spleen is rare but may potentially expose the patient to the risk of parenchymal abscess or haemorrhage. Often the clinic does not indicate early this complication.
Conclusion:
We underline the need for a close radiologic follow-up, regardless of clinical conditions, in all patients treated with double-pigtail drain and its early removal in case of migration.
Immunohistochemical Evaluation of Histological Change in a Chinese Milroy Disease Family With Venous and Skin Abnormities
Authors: Sijia Zhang, Xihui Chen, Lijuan Yuan, Shuyan Wang, Dangzhi Moli, Shujuan Liu, Yuanming Wu
Journal: Front Genet (2019)
Keywords: d2-40, flt4, milroy disease, fetus, lymphedema
MeSH terms: Case Reports

Background: Milroy disease (MD) is rare and autosomal dominant resulting from mutations of the vascular endothelial growth factor receptor-3 (VEGFR-3 or FLT4), which leads to dysgenesis of the lymphatic system. Methods: Here we report a Chinese MD family with 2 affected members of two generations. We identified the mutation of c.3075G>A in one allele of FLT4 in Chinese population firstly. The father and child presented lymphedema under knees both. Unfortunately, the child was premature delivered for a car accident of the mother and then died of asphyxia. Then we gathered the tissue of the lower-limb from the child with permission from the parents and ethic committee. We stained the tissue with lymphatic marker D2-40 and hematoxylin-eosin to explore the histological changes. Afterwards, we compared the results with a normal child who unfortunately died of premature delivery also. Results: It is firstly identified the mutation of FLT4: c.3075G>A in Chinese population, and the mutation Inherited in the lineage. The histological evaluation indicated: (1) The number of lymphatic vessels decreased; (2) The morphology and structure of lymphatic vessels was abnormal. And what is added to our knowledge: (1) Capillary hyperemia and phlebectasia is severe; (2) Vascular malformations; (3) The number of vascular endothelial cells and vascular smooth muscle cells decreased; (4) Large sheets of epidermis desquamated; (5) The numbers of cutaneous appendages reduced in MD. Conclusions: Based on the new findings, we assume that mutation of FLT4 not only affect the lymphogenesis, but also the angiogenesis, and epidermis structure.
Carotid body paraganglioma: a case report
Authors: Swaragandha Shivaji Jadhav, Avinash Parashuram Dhok, Kajal Ramendranath Mitra
Journal: Pan Afr Med J (2023)
Keywords: paraganglioma, carotid body tumor, case report, chemodectomas, neck tumor
MeSH terms: Carotid Body Tumor / diagnostic imaging, Carotid Body Tumor / surgery, Glomus Tumor, Paraganglioma / diagnostic imaging, Paraganglioma / surgery, Paraganglioma, Extra-Adrenal, Case Reports, Adult, Carotid Artery, Internal / pathology, Female, Humans, Radiography

A highly vascular glomus tumor that develops from the paraganglion cells of the carotid body is called a carotid body tumor (CBT), also known as a chemodectoma or carotid body paraganglioma (CBP). It is situated near the carotid bifurcation, where the external and internal carotid arteries splay out characteristically. We present a case of a 30-year-old woman who had a slightly tender, slightly pulsatile, and slightly ballotable swelling over the lateral aspect of the neck on the right side. The surgical resection of the tumor was done based on the diagnosis made on clinical-radiological investigations as a carotid body tumor further confirmed by a histopathological study. We also provide a summary of the research on carotid body tumors clinical and imaging manifestations, assessment, and therapy.
Mirror therapy for an adult with central post-stroke pain: a case report
Authors: Davide Corbetta, Elisabetta Sarasso, Federica Agosta, Massimo Filippi, Roberto Gatti
Journal: Arch Physiother (2018)
Keywords: case reports, pain perception, physical therapy modalities, stroke
MeSH terms: Case Reports

Background:
Treatment of central post-stroke pain (CPSP) after a thalamic-capsular stroke is generally based on pharmacological approach as it is low responsive to physiotherapy. In this case report, the use of mirror therapy (MT) for the reduction of CPSP in a subject after a stroke involving thalamus is presented.
Case presentation:
Five years after a right lenticular-capsular thalamic stroke, despite a good recovery of voluntary movement that guaranteed independence in daily life activities, a 50-year-old woman presented with mild weakness and spasticity, an important sensory loss and a burning pain in the left upper limb. MT for reducing arm pain was administered in 45-min sessions, five days a week, for two consecutive weeks. MT consisted in performing symmetrical movements of both forearms and hands while watching the image of the sound limb reflected by a parasagittal mirror superimposed to the affected limb. Pain severity was assessed using visual analogue scale (VAS) before and after the intervention and at one-year follow-up. After the two weeks of MT, the patient demonstrated 4.5 points reduction in VAS pain score of the hand at rest and 3.9 points during a maximal squeeze left hand contraction. At one-year follow-up, pain reduction was maintained and also extended to the shoulder.
Conclusion:
This case report shows the successful application of a motor training with a sensory confounding condition (MT) in reducing CPSP in a patient with a chronic thalamic stroke.
Argyrophilic grain disease: an update about a frequent cause of dementia
Authors: Lea T Grinberg, Helmut Heinsen
Journal: Dement Neuropsychol (2009)
Keywords: argyrophilic grain disease, brain, neurology, pathology, tau
MeSH terms: Review

Argyrophilic grain disease (AGD) is a sporadic, very late-onset tauopathy, accounting for approximately 4-13% of neurodegenerative dementias. AGD may manifest with a range of symptoms such as cognitive decline and behavioral abnormalities. To date, no study has been able to demonstrate a distinct clinical syndrome associated with AGD. The diagnosis is exclusively based on postmortem findings, the significance of which remains controversial because up to 30% of AGD cases are diagnosed in subjects without any cognitive impairment, while AGD findings often overlap with those of other neurodegenerative processes. Nevertheless, the presence of AGD is likely to have a significant effect on cognitive decline. The neuropathological hallmarks of AGD are argyrophilic grains, pre-neurofibrillary tangles in neurons and coiled bodies in oligodendrocytes found mainly in the entorhinal cortex and hippocampus. This review aims to provide an up-to-date overview of AGD, emphasizing pathological aspects. Additionally, the findings of a Brazilian case series are described.
Case Report: Clostridium neonatale Bacteremia in a Preterm Neonate With Necrotizing Enterocolitis
Authors: Nadim Cassir, Isabelle Grandvuillemin, Manon Boxberger, Priscilla Jardot, Farid Boubred, Bernard La Scola
Journal: Front Pediatr (2021)
Keywords: clostridium neonatale, case report, gut microbiota, necrotizing enterocolitis, preterm neonate
MeSH terms: Case Reports

Necrotizing enterocolitis is a life-threatening acquired gastrointestinal disorder among preterm neonates and is associated with a high mortality rate and long-term neurodevelopmental morbidity. No etiologic agent has been definitively established; nonetheless, the most implicated bacteria include members of the Clostridium genus. We reported here on a case of Clostridium neonatale bacteremia in a preterm neonate with necrotizing enterocolitis, providing more information regarding the potential role of this bacterium in pathogenesis of necrotizing enterocolitis. We emphasized the sporulating form of C. neonatale that confers resistance to disinfectants usually applied for the hospital environmental cleaning. Further works are needed to establish the causal relationship between the occurrence of NEC and the isolation of C. neonatale, with promising perspectives in terms of diagnostic and therapeutic management.
Severe Keratitis Caused by Pseudomonas aeruginosa Successfully Treated with Ceftazidime Associated with Acetazolamide
Authors: Benoit Hue, Marc Doat, Gilles Renard, Marie-Laure Brandely, François Chast
Journal: J Ophthalmol (2009)
MeSH terms: Case Reports

Purpose. To report a case of microbial keratitis caused by Pseudomonas aeruginosa treated with a combination of acetazolamide and ceftazidime. Methods. Case report. Results. We report the case of a 17-year-old contact lens-wearing female who developed severe keratitis due to Pseudomonas aeruginosa temporarily healed with topical fortified antibiotic eye drops. After few days, the patient relapsed, and topical and intravenous ceftazidime were added. Concomitantly, oral administration of acetazolamide was prescribed. This carbonic anhydrase inhibitor was added to the antibiotic regimen in order to decrease the anterior chamber pH, and then, the ceftazidime ionization. By lowering the state of ionization of the antibiotic in the aqueous humor, its concentration was increased. This was confirmed by an improvement of the patient within few days and a rapid eradication of the infection. Conclusion. This is the first reported case of keratitis caused by P. aeruginosa successfully treated using acetazolamide as an enhancer of ceftazidime effectiveness.
High-throughput phenotyping of plant resistance to aphids by automated video tracking
Authors: Karen J Kloth, Cindy Jm Ten Broeke, Manus Pm Thoen, Marianne Hanhart-van den Brink, Gerrie L Wiegers, Olga E Krips, Lucas Pjj Noldus, Marcel Dicke, Maarten A Jongsma
Journal: Plant Methods (2015)
Keywords: aphids, arabidopsis, arabidopsis thaliana, automated video tracking, host plant resistance, lactuca sativa, phenotyping, piercing-sucking insects

Background:
Piercing-sucking insects are major vectors of plant viruses causing significant yield losses in crops. Functional genomics of plant resistance to these insects would greatly benefit from the availability of high-throughput, quantitative phenotyping methods.
Results:
We have developed an automated video tracking platform that quantifies aphid feeding behaviour on leaf discs to assess the level of plant resistance. Through the analysis of aphid movement, the start and duration of plant penetrations by aphids were estimated. As a case study, video tracking confirmed the near-complete resistance of lettuce cultivar 'Corbana' against Nasonovia ribisnigri (Mosely), biotype Nr:0, and revealed quantitative resistance in Arabidopsis accession Co-2 against Myzus persicae (Sulzer). The video tracking platform was benchmarked against Electrical Penetration Graph (EPG) recordings and aphid population development assays. The use of leaf discs instead of intact plants reduced the intensity of the resistance effect in video tracking, but sufficiently replicated experiments resulted in similar conclusions as EPG recordings and aphid population assays. One video tracking platform could screen 100 samples in parallel.
Conclusions:
Automated video tracking can be used to screen large plant populations for resistance to aphids and other piercing-sucking insects.
Acute Extrapyramidal Side Effects from Smoked Haloperidol
Authors: Angeline Pham, Joo-Young Lee, Christopher W T Miller
Journal: Case Rep Psychiatry (2021)
MeSH terms: Case Reports

Introduction:
Haloperidol is a dopamine receptor antagonist used to treat patients with psychotic disorders. Especially at high doses, haloperidol carries a higher risk of extrapyramidal symptoms (EPS) compared to second-generation antipsychotics. Few cases of haloperidol misuse are found in the medical literature. Case Presentation. We describe a patient with schizophrenia who smoked marijuana mixed with crushed haloperidol tablets. After the smoking of cannabis and haloperidol, the patient presented to the emergency department (ED) with suicidal ideation, psychosis, and acute dystonia. With the administration of intramuscular diphenhydramine at the ED, the dystonia resolved in less than an hour. To our knowledge, this is the first report on haloperidol misuse by smoking.
Conclusion:
Clinicians should be aware that patients might misuse prescribed antipsychotics via unconventional routes, potentially combined with other substances.
Fixator-Assisted Nailing for Femur Neck Fracture Nonunion: A Case Series Study
Authors: Majdi Hashem, Mohammad S Al-Tuwaijri
Journal: Adv Orthop (2022)

Background:
Femoral neck fractures in young adults tend to be a result of high-energy trauma with a common pattern of Pauwels type III fracture, and they require timely and meticulous diagnosis and management. The objective of this study was to assess the clinical and radiological outcomes of the fixator-assisted nailing technique for managing femur neck fracture nonunion. Methods. This was a case series study of 16 patients with nonunion femoral neck fractures treated via a fixator-assisted nailing technique. Our inclusion criteria comprised the inclusion of any patient between the ages of 14 and 60 years old with a neglected neck of femur fracture or nonunion of the femur neck. In addition, we only included patients without further posttreatment trauma and without known metabolic diseases. The conditions that were excluded from this study included hip joints with preexisting osteoarthritis, radiographic evidence of avascular necrosis of the femoral head, and associated ipsilateral acetabulum fracture or fracture-dislocation. The fracture characteristics that were selected for the fixator-assisted nailing (FAN) technique were clear signs of pseudoarthrosis (such as sclerosis, clear fracture line defects, and failure of implants), in addition to evidence of varus malalignment. All fractures were Pauwels type III. Radiographs of the pelvis with both hips and a posteroanterior (PA) view of the injured hip were taken. Full weight bearing was allowed in all the patients from the first day postoperatively. Physical therapy was started for pain reduction modalities, stretching, and abductor strengthening.
Results:
Union of the femur neck fracture and osteotomy site was achieved in all patients. An excellent functional status after four months of follow-up was found based on a modified Harris hip score questionnaire. At follow-up, no patient was suffering from pain or flexion contracture. Preoperative limb length discrepancy (LLD) (cm) was 1.8 ± 0.8 cm and postoperative was 0 ± 0.1 cm, p < 0.001. Preoperative neck-shaft angle (NSA) (o) was 85.6 ± 4.4 and postoperative was 126.9 ± 2.5, p < 0.001. Preoperative Pauwels angle (o) was an average of 50.4 ± 5.9 and postoperative was 31.3 ± 2.5, p < 0.001.
Conclusion:
Our study indicates that FAN has a high success rate in young patients with nonunited femoral neck fractures.
Case Report: Partial response to single-agent pembrolizumab in a chemotherapy-resistant metastatic pancreatic cancer patient with a high tumor mutation burden
Authors: Mengyao Dai, Jianpeng Sheng, Qi Zhang, Jianxin Wang, Qihan Fu, Tingbo Liang
Journal: Front Oncol (2023)
Keywords: cytof, immunotherapy, molecular alterations, pancreatic cancer, tumor mutation burden (tmb)
MeSH terms: Case Reports

Single-agent immune checkpoint blockade has shown no clinical benefits in pancreatic cancer. Recently, the programmed cell death protein 1 (PD-1) antibody pembrolizumab has been recommended as a treatment option for high tumor mutational burden (TMB) solid tumors based on the data from a basket trial. However, no pancreatic cancer patients were enrolled in that trial. Whether pancreatic cancer patients with high TMB respond to PD-1 blockade as well remains unclear. Here, we report a case with a partial response to single-agent immunotherapy with pembrolizumab in pancreatic cancer with high TMB after the failure of several lines of chemotherapy. This result indicates that single-agent immunotherapy may be effective in pancreatic cancer patients with high TMB. In addition, in order to understand the basic immune state of our patients, we also analyzed the changes in immune cells in peripheral blood with cytometry by time-of-flight mass spectrometry (CyTOF) before and after pembrolizumab treatment.
Teenage Male with Cough and Recurrent Bruit
Authors: Sheema Gaffar, Elliot Tucker
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

A general pediatrician is skilled at continuity; through longitudinal evaluation, they serve as front-line providers in the recognition and referral of unusual pathology. The majority of arteriovenous malformations (AVM) are diagnosed with history and physical examination. AVM are inherently progressive by nature; their expansion is what creates the risk of morbidity. With higher-risk vascular lesions, relative risk is important when discussing management with observation versus with invasive intervention. Size, location, and expected course of progression of the lesion help generate a timeline for action. Collaboration of physicians with diverse expertise generates optimal plan of therapy, particularly when faced with an unusual clinical finding. Genetics referral may be beneficial, as the body of literature on AVM is growing, and databases on associated syndromes are evolving. Establishing concrete follow-up is imperative to assess for recurrence of AVM or development of additional symptoms. This can be with the interventionalist or with the generalist.
Thymoma associated with hypogammaglobulinaemia and pure red cell aplasia
Authors: Juan Briones, Mirentxu Iruretagoyena, Héctor Galindo, Claudia Ortega, Pablo Zoroquiain, José Valbuena, Francisco Acevedo, Mauricio Ocqueteau, Cesar Sánchez
Journal: Ecancermedicalscience (2013)
Keywords: hypogammaglobulinaemia, pure red cell aplasia, thymoma
MeSH terms: Case Reports

Thymomas are neoplasias that begin in the thymus and develop in the anterior mediastinum. They are commonly associated with a variety of systemic and autoimmune disorders, such as pure red cell aplasia, hypogammaglobulinaemia, pancytopaenia, collagen diseases, and, most commonly, myasthenia gravis. The presence of inter-current infections, especially diarrhoea and pneumonia, in the presence of lymphocyte B depletion and hypogammaglobulinaemia is known as Good's syndrome and may affect up to 5% of patients with thymoma. While anaemia is present in 50%-86% of patients with Good's syndrome, only 41.9% of cases present pure red cell aplasia. Concomitance of these two conditions has only been rarely studied. We report on the case of a 55-year-old man diagnosed with advanced thymoma, who, during the progression of his disease, developed signs and symptoms suggesting Good's syndrome and pure red cell aplasia. We also performed a brief review of the literature concerning this association, its clinical characteristics, and treatment.
A Lung Cancer Patient Harboring a Rare Oncogenic EGFR Exon 20 V786M Mutation Responded to a Third-Generation Tyrosine Kinase Inhibitor: Case Report and Review of the Literature
Authors: Qi Zhu, Mingyun Jiang, Wenfei Li, Shuangli Sun, Jisheng Li, Justin Stebbing, Xiaodong Liang, Ling Peng
Journal: Front Oncol (2022)
Keywords: egfr, nsclc, immune checkpoint inhibitor, rare mutation, tyrosine kinase inhibitor
MeSH terms: Case Reports

Background:
Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are effective treatments for non-small cell lung cancer (NSCLC) patients with activating EGFR mutations. There are many uncommon and rare mutations in the EGFR gene. The efficacy of the EGFR-TKIs is largely unknown for cancers harboring uncommon or rare EGFR mutations.
Case presentation:
A 69-year-old woman was diagnosed with adenocarcinoma cT4N2M1c, stage IVB. Next-generation sequencing (NGS) confirmed a rare EGFR V786M mutation. During chemotherapy, immune checkpoint inhibitor (ICI), and anti-angiogenic treatment, no radiological response was observed. Subsequent third-generation EGFR TKI showed a remarkable therapeutic effect. Structural prediction revealed that the V786M mutation induces conformational change at the dimer interface, without altering the ATP binding to the EGFR tyrosine kinase domain (TKD). Consistently, docking simulations indicated that the affinity of ATP to the V786M mutant was not disturbed, which explained the TKI sensitivity.
Conclusions:
Our data confirmed the activating role on EGFR V786M mutation. Together with structural predictions and clinical evidence for activity of TKIs against EGFR V786M mutations, these findings warrant further investigation.