OpenMed/multicare-articles huggingface dataset:
Surgical pulmonary embolectomy on VA-ECMO
Authors: Rachel Steinhorn, Adam A Dalia, Edward A Bittner, Marvin G Chang
Journal: Respir Med Case Rep (2021)
Keywords: act, activated clotting time, asd, atrial septal defect, ci, cardiac index, cpb, cardiopulmonary bypass, ct, computed tomography, cardiopulmonary bypass, case report, eeg, electroencephalogram, extracorporeal membrane oxygenation, icu, intensive care unit, lpa, left pulmonary artery, mpa, main pulmonary artery, mpap, mean pulmonary artery pressure, mri, magnetic resonance imaging, pa, pulmonary artery, pe, pulmonary embolism, pert, pulmonary embolism response team, pfo, patent foramen ovale, ptt, partial thromboplastin time, pulmonary embolectomy, pulmonary embolism, rpa, right pulmonary artery, sdh, subdural hemorrhage, tee, transesophageal echocardiography, tpa, tissue plasminogen activator, va-ecmo, va-ecmo, venoarterial extracorporeal membrane oxygenation
MeSH terms: Case Reports

Surgical pulmonary embolectomy is a procedure that is often used to rescue patients with massive pulmonary embolism (PE) and circulatory collapse that have failed or may not be ideal candidates for other systemic and endovascular treatment modalities. This procedure typically involves a sternotomy and the use of cardiopulmonary bypass (CPB), which requires full systemic anticoagulation. Here, we report the case of a surgical pulmonary embolectomy performed on venoarterial extracorporeal membrane oxygenation (VA-ECMO) rather than CPB to minimize systemic anticoagulation. The patient had suffered a cardiac arrest due to a saddle PE and required VA-ECMO which was complicated by a concomitant intracranial hemorrhage. The patient tolerated the surgical pulmonary embolectomy performed on VA-ECMO without procedure-related complications, and the ECMO support did not substantially complicate the technical performance of the procedure. In contrast to surgical pulmonary embolectomy performed on CPB, greater attention must be paid to volume status when performing the procedure on VA-ECMO since there is no blood reservoir. This case suggests cardiopulmonary support on ECMO as a viable strategy for surgical embolectomy in patients with unstable PEs in whom thrombolysis or full systemic anticoagulation are contraindicated.
Neuroinvasive Infection from O117:K52:H- Escherichia coli following Acute Pyelonephritis
Authors: H Cromlin, H Rodriguez-Villalobos, A Deplano, T Duprez, P Hantson
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Spontaneous or nosocomial Escherichia coli meningitis remains rare in healthy adults but is still carrying a high mortality rate despite adapted antimicrobial treatment for susceptible strains. A 39-year-old woman was admitted to the hospital with severe subarachnoid haemorrhage complicated by acute hydrocephalus. On hospital day 10, she developed Streptococcus anginosus septicaemia and urinary tract infection due to a multisensitive strain of E. coli. This infection was successfully controlled by antimicrobial therapy. As a late complication in the neurosurgical ward (day 39), she developed fever, alteration of consciousness, and shock, leading to the diagnosis of bacterial meningitis. The culture of blood, cerebrospinal fluid, and urine grew positive for a multisensitive E. coli. The strain was identified as O117:K52:H, a serotype that was until now never associated with acute meningitis or brain abscesses. The source appeared to be the urinary tract with the demonstration of acute pyelonephritis. The patient died on day 94 from delayed complications of multiple brain abscesses.
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa
Authors: João Farela Neves, Rainer Doffinger, Gabriela Barcena-Morales, Catarina Martins, Olivier Papapietro, Vincent Plagnol, James Curtis, Marta Martins, Dinakantha Kumararatne, Ana Isabel Cordeiro, Conceição Neves, Luis Miguel Borrego, Matilda Katan, Sergey Nejentsev
Journal: Front Immunol (2018)
Keywords: aplaid, il-10, il-1b, plcγ2, auto-inflammatory syndromes, cutis laxa, sensorineural deafness
MeSH terms: Cutis Laxa / genetics, Hereditary Autoinflammatory Diseases / genetics, Immunologic Deficiency Syndromes / genetics, Mutation, Missense, Phospholipase C gamma / genetics, Case Reports, Research Support, Non-U.S. Gov't, Amino Acid Sequence, Base Sequence, Cutis Laxa / complications, Cutis Laxa / enzymology, DNA Mutational Analysis, Female, Hereditary Autoinflammatory Diseases / complications, Hereditary Autoinflammatory Diseases / enzymology, Humans, Immunologic Deficiency Syndromes / complications, Immunologic Deficiency Syndromes / enzymology, Infant, Newborn, Inflammatory Bowel Diseases / complications, Inflammatory Bowel Diseases / genetics, Male, Pedigree, Phospholipase C gamma / chemistry, Phospholipase C gamma / metabolism, Sequence Homology, Amino Acid, Phospholipase C gamma

Background: The auto-inflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) syndrome is a rare primary immunodeficiency caused by a gain-of-function mutation S707Y in the PLCG2 gene previously described in two patients from one family. The APLAID patients presented with early-onset blistering skin lesions, posterior uveitis, inflammatory bowel disease (IBD) and recurrent sinopulmonary infections caused by a humoral defect, but lacked circulating autoantibodies and had no cold-induced urticaria, contrary to the patients with the related PLAID syndrome. Case: We describe a new APLAID patient who presented with vesiculopustular rash in the 1st weeks of life, followed by IBD, posterior uveitis, recurrent chest infections, interstitial pneumonitis, and also had sensorineural deafness and cutis laxa. Her disease has been refractory to most treatments, including IL1 blockers and a trial with ruxolitinib has been attempted. Results: In this patient, we found a unique de novo heterozygous missense L848P mutation in the PLCG2 gene, predicted to affect the PLCγ2 structure. Similarly to S707Y, the L848P mutation led to the increased basal and EGF-stimulated PLCγ2 activity in vitro. Whole blood assays showed reduced production of IFN-γ and IL-17 in response to polyclonal T-cell stimulation and reduced production of IL-10 and IL-1β after LPS stimulation. Reduced IL-1β levels and the lack of clinical response to treatment with IL-1 blockers argue against NLRP3 inflammasome hyperactivation being the main mechanism mediating the APLAID pathogenesis. Conclusion: Our findings indicate that L848P is novel a gain-of-function mutation that leads to PLCγ2 activation and suggest cutis laxa as a possible clinical manifestations of the APLAID syndrome.
More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome
Authors: Hussein Algahtani, Bashair Ibrahim, Bader Shirah, Ahmad Aldarmahi, Ahad Abdullah
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Alternating hemiplegia of childhood (AHC) is a distinct clinical disorder characterized by recurrent episodes of hemiplegia, abnormal ocular movement, and progressive developmental delay. It is an extremely rare genetic disorder related to ATP1A3 gene mutations. In this paper, we present a case of AHC in which the diagnosis was missed for many years until severe hypoxic brain insult occurred from prolonged status epilepticus. Not only we are presenting an interesting clinical entity and radiological images, but also we are shedding the light on a rare genetic disease with catastrophic sequelae. The challenges in diagnosis and treatment lead to a poor outcome as seen in our case. Although early recognition and accurate diagnosis and treatment of the disease may not change the outcome, counseling of the family may change their expectation and reduce their frustration. Referral to a center with expertise in genetic disorders and access to genetic laboratories is of paramount importance in the diagnosis of this disease. Due to the rarity of this disease in Saudi Arabia, a genotype-phenotype correlation is not feasible.
Effect of High-Dose Vitamin C Infusion in a Glucose-6-Phosphate Dehydrogenase-Deficient Patient
Authors: Joseph Quinn, Bryan Gerber, Ryan Fouche, Katharine Kenyon, Zachary Blom, Purushothaman Muthukanagaraj
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Vitamin C supplementation is generally regarded as benign. There has been a resurgence of interest in the general medical community regarding the use of vitamin C most notably in the care of sepsis. Nonetheless, caution must be taken if supraphysiologic vitamin C supplementation is being administered as it should be considered a medication just like any other. We present a case of hemolysis in a glucose-6-phosphate dehydrogenase- (G6PD-) deficient patient receiving high-dose vitamin C infusions for his rheumatoid arthritis.
Resistant Ventricular Tachycardia due to Idiopathic Left Ventricular Aneurysm: Successful Treatment with Surgery
Authors: Muhammed Keskin, Tufan Çınar, Mert İlker Hayıroğlu, Ömer Kozan
Journal: J Tehran Heart Cent (2019)
Keywords: aneurysm, heart ventricles, surgical procedures, operative, tachycardia, ventricular
MeSH terms: Case Reports

Left ventricular aneurysms (LVAs) are characterized by a wide connection to the left ventricle and paradoxical systolic motions. Although patients with LVAs are usually asymptomatic, some may present with arrhythmias, heart failure, and even cardiac arrest. In this case report, we describe a 62-year-old male patient who presented to our emergency service with complaints of palpitation and shortness of breath of 2 hours' duration. His blood pressure was 84/56 mm Hg, and he was in a confused state. An electrocardiogram revealed ventricular tachycardia (VT) with right bundle branch block and a ventricular rate of 188 bpm. The patient's hemodynamic instability necessitated a direct current cardioversion, which restored the sinus rhythm. During the in-hospital course, he had numerous recurrent VT episodes despite treatment with intravenous amiodarone and magnesium sulfate as well as radiofrequency ablation. Upon consensus with a cardiovascular surgeon's team, urgent surgery was performed due to the resistant VT episodes. The patient's clinical course was uneventful, and he was discharged on the 11th postoperative day. We have been following up the patient for almost 1 year, during which he has not experienced palpitations or associated symptoms. Our case indicates that surgery may be a preferable treatment option for patients with heart failure and resistant VT related to LVAs.
Spontaneous retinal pigment epithelial tear in type 2 choroidal neovascularization: repair mechanisms following anti-VEGF therapy
Authors: Giuseppe Casalino, Vasuki Sivagnanavel, Samir Dowlut, Pearse A Keane, Usha Chakravarthy
Journal: Int J Retina Vitreous (2019)
Keywords: age-related macular degeneration, anti-vegf therapy, choroidal neovascularization, multimodal retinal imaging, repair mechanism, retinal pigment epithelial tear
MeSH terms: Case Reports

Background:
To report the clinical course and the multimodal retinal imaging of a spontaneous retinal pigment epithelial (RPE) tear in a type 2 choroidal neovascularization (CNV) secondary to age-related macular degeneration treated with anti-vascular endothelial growth factor (VEGF) treatment.
Case presentation:
A 74 year-old man presented with visual acuity deterioration in the right eye. Multimodal retinal imaging showed a predominantly classic (type 2) CNV complicated by a spontaneous RPE tear. The patient received six intravitreal injections of anti-VEGF which resulted in improvement of the vision and stabilization of the neovascular lesion on optical coherence tomography (OCT). Longitudinal changes of the RPE-photoreceptors interface, including RPE splitting, are reported on OCT.
Conclusion:
RPE tears may spontaneously occur in type 2 CNV. Anti-VEGF treatment should be aimed at promoting RPE repair and limiting the extent of the scarring. The mechanisms of RPE repair during treatment may be documented with OCT.
Case report: Rehabilitation course in thrombocytopenia, anasarca, fever, reticulin fibrosis/renal failure, and organomegaly syndrome complicated by cerebral infarction in the left parabolic coronary region
Authors: Takamasa Hashizaki, Yukihide Nishimura, Tokio Kinoshita, Kohei Minami, Makoto Kawanishi, Yasunori Umemoto, Fumihiro Tajima
Journal: Front Neurol (2023)
Keywords: borg scale, case report, rehabilitation, stroke, thrombocytopenia anasarca fever reticulin fibrosis/renal failure organomegaly syndrome
MeSH terms: Case Reports

Although thrombocytopenia, anasarca, fever, reticulin fibrosis/renal failure, and organomegaly (TAFRO) syndrome was first reported in 2010, its pathogenesis and prognosis are still unknown. Moreover, reports on rehabilitation in patients with TAFRO are limited. In severe cases, dyspnea and muscle weakness could impede improvements in activities of daily living (ADL). However, reports on exercise intensity showed no worsening of TAFRO within the load of 11-13 on the Borg scale. Herein, we describe the rehabilitation and progress in a 61-year-old woman with TAFRO syndrome complicated by cerebral infarction from early onset to discharge. After cerebral infarction onset in the perforating artery, she was admitted to the intensive care unit due to decreased blood pressure and underwent continuous hemodiafiltration. Two weeks following transfer to a general ward, the patient started gait training using a brace due to low blood pressure, respiration, and tachycardia. After initiating gait training, increasing the amount of training was difficult due to a high Borg scale of 15-19, elevated respiratory rate, and worsening tachycardia. Furthermore, there was little improvement in muscle strength on the healthy side after continuous training, owing to long-term steroid administration. On day 100 after transfer, the patient was discharged home with a T-cane gait at a monitored level. The patient had severe hemiplegia due to complications with severe TAFRO syndrome delaying early bed release and gait training; tachycardia; and respiratory distress. Additionally, delayed recovery from muscle weakness on the non-paralyzed side made it difficult for the patient to walk and perform ADLs. Despite these issues, low-frequency rehabilitation was useful. However, low-frequency rehabilitation with gait training, using a Borg scale 15-19 orthosis, did not adversely affect the course of TAFRO syndrome.
Alveolar rhabdomyosarcoma of epididymis: A case report
Authors: Xiangyi Liang, Shun Wang, Tao Li, Longlong Liu, Yu Duan, Yuting Luo, Qing Wang, Jianxin Hu, Kehua Jiang
Journal: Front Oncol (2022)
Keywords: alveolar, diagnosis, epididymis, rhabdomyosarcoma, treatment
MeSH terms: Case Reports

Rhabdomyosarcoma (RMS) is a soft tissue tumor, which is the most common in the head, neck, limbs, and trunk. RMS originating from the epididymis is extremely rare. Herein, we reported a 34-year-old patient with RMS on the right epididymis. For this case, right epididymal mass resection was performed and intraoperative freezing suggested a malignant tumor. Right testicular radical resection was subsequently adopted, with right epididymal alveolar RMS being pathologically diagnosed. Alternating VAC/VI chemotherapy was given after surgery, and tumor recurrence has not been found so far.
RNA Sequencing for Personalized Treatment of Metastatic Leiomyosarcoma: Case Report
Authors: Alexander Seryakov, Zaynab Magomedova, Maria Suntsova, Anastasia Prokofieva, Elizaveta Rabushko, Alexander Glusker, Lyudmila Makovskaia, Marianna Zolotovskaia, Anton Buzdin, Maxim Sorokin
Journal: Front Oncol (2021)
Keywords: rna sequencing, cancer gene fusion, oncobox, personalized therapy, regorafenib, targeted therapeutics, uterine leiomyosarcoma, whole-exome sequencing
MeSH terms: Case Reports

Uterine leiomyosarcoma (UL) is a rare malignant tumor that develops from the uterine smooth muscle tissue. Due to the low frequency and lack of sufficient data from clinical trials there is currently no effective treatment that is routinely accepted for UL. Here we report a case of a 65-years-old female patient with metastatic UL, who progressed on ifosfamide and doxorubicin therapy and developed severe hypertensive crisis after administration of second line pazopanib, which lead to treatment termination. Rapid progression of the tumor stressed the need for the alternative treatment options. We performed RNA sequencing and whole exome sequencing profiling of the patient's biopsy and applied Oncobox bioinformatic algorithm to prioritize targeted therapeutics. No clinically relevant mutations associated with drug efficiencies were found, but the Oncobox transcriptome analysis predicted regorafenib as the most effective targeted treatment option. Regorafenib administration resulted in a complete metabolic response which lasted for 10 months. In addition, RNA sequencing analysis revealed a novel cancer fusion transcript of YWHAE gene with fusion partner JAZF1. Several chimeric transcripts for YWHAE and JAZF1 genes were previously found in uterine neoplasms and some of them were associated with tumor prognosis. However, their combination was detected in this study for the first time. Taken together, these findings evidence that RNA sequencing may complement analysis of clinically relevant mutations and enhance management of oncological patients by suggesting putative treatment options.
Successful conservative management of diffuse cavernous hemangioma of the rectum
Authors: Katsuki Osaki, Yukiko Mori, Yoshinao Ozaki, Daisuke Yamaguchi, Akira Nozaki, Ikuo Aoyama, Masashi Kanai, Shigemi Matsumoto, Manabu Muto
Journal: Int Cancer Conf J (2016)
Keywords: cavernous hemangioma, endoscopy, mri, rectum
MeSH terms: Case Reports

Diffuse cavernous hemangioma of the rectum (DCHR) is a relatively rare disease. A 40-year-old man presented with long-standing lower abdominal discomfort and hematuria. At the time of hospitalization, his vital signs and hemoglobin level were normal. Colonoscopy showed markedly dilated blood vessels in the sigmoid mucosa, which was confirmed on magnetic resonance imaging and computed tomography as cavernous hemangioma. Without surgery, there have been no signs of progression of DCHR during a 3-year follow-up period.
GIS for empirical research design: An illustration with georeferenced point data
Authors: Katsuo Kogure, Yoshito Takasaki
Journal: PLoS One (2019)
MeSH terms: Data Interpretation, Statistical, Geographic Information Systems / trends, Spatial Analysis, Research Support, Non-U.S. Gov't, Empirical Research, Humans, Research Design / trends

This paper demonstrates how Geographic Information Systems (GIS) can be utilized to study the effects of spatial phenomena. Since experimental designs such as Randomized Controlled Trials are generally not feasible for spatial problems, researchers need to rely on quasi-experimental approaches using observational data. We provide a regression-based framework of the key procedures for GIS-based empirical research design using georeferenced point data for both spatial events of interest and subjects exposed to the events. We illustrate its utility and implementation through a case study on the impacts of the Cambodian genocide under the Pol Pot regime on post-conflict education.
Breeding for Climate Change Resilience: A Case Study of Loblolly Pine ( Pinus taeda L.) in North America
Authors: Lilian P Matallana-Ramirez, Ross W Whetten, Georgina M Sanchez, Kitt G Payn
Journal: Front Plant Sci (2021)
Keywords: abiotic stress, climate change, cold, conifer genomics, drought, loblolly pine, tree breeding, tree physiology
MeSH terms: Review

Earth's atmosphere is warming and the effects of climate change are becoming evident. A key observation is that both the average levels and the variability of temperature and precipitation are changing. Information and data from new technologies are developing in parallel to provide multidisciplinary opportunities to address and overcome the consequences of these changes in forest ecosystems. Changes in temperature and water availability impose multidimensional environmental constraints that trigger changes from the molecular to the forest stand level. These can represent a threat for the normal development of the tree from early seedling recruitment to adulthood both through direct mortality, and by increasing susceptibility to pathogens, insect attack, and fire damage. This review summarizes the strengths and shortcomings of previous work in the areas of genetic variation related to cold and drought stress in forest species with particular emphasis on loblolly pine (Pinus taeda L.), the most-planted tree species in North America. We describe and discuss the implementation of management and breeding strategies to increase resilience and adaptation, and discuss how new technologies in the areas of engineering and genomics are shaping the future of phenotype-genotype studies. Lessons learned from the study of species important in intensively-managed forest ecosystems may also prove to be of value in helping less-intensively managed forest ecosystems adapt to climate change, thereby increasing the sustainability and resilience of forestlands for the future.
Giant Amoebic Liver Abscess: A Rare Diagnosis in a Rural Setting of Sub-Saharan Africa
Authors: Cyril Jabea Ekabe, Jules Kehbila, Njinju Asaba Clinton
Journal: J Parasitol Res (2021)

Background:
Extraintestinal amoebiasis is an uncommon complication of Entamoeba histolytica infection, occurring in about 5-10% of patient. Prompt diagnosis and management is essential to prevent complications. However, diagnosis and management in resource-limited settings is very challenging owing to limited diagnostic tools and nonspecific clinical symptoms. Therefore, our case report underscores the role of incisive clinical evaluation, basic investigation, and nonsurgical management of giant amoebic abscess in resource-limited settings. Case Presentation. A 13-year-old female Cameroonian presented with subacute onset of upper abdominal pain, high fever, and chest pain for one week. Before presentation, she had been on treatment at a local traditional practitioner during which her symptoms worsen. After clinical evaluation and basic investigation, she was diagnosed with a giant amoebic liver abscess. She was resuscitated and placed on nonsurgical management. Follow-up after 1 month was significant for complete recovery.
Conclusion:
Amoebic liver abscess is a rare complication of Entamoeba histolytica infection with devastating complications. The diagnosis of this disease requires high index of suspicion in resource-limited settings. Good clinical evaluation and timely nonsurgical therapy can provide recovery to some patients.