OpenMed/multicare-articles huggingface dataset:
Congenital insensitivity to pain: a case report and review of the literature
Authors: Leema Reddy Peddareddygari, Kinsi Oberoi, Raji P Grewal
Journal: Case Rep Neurol Med (2014)

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal and could represent the consequences of secondary complications of cervical and lumbosacral spine disease and associated severe Charcot's joints.
Intermittent Massage as a Therapeutic Option for Compartment Syndrome after Embolectomy of the Lower Limbs
Authors: José Maria Pereira de Godoy, Maria de Fátima Guerreiro Godoy
Journal: Case Rep Vasc Med (2018)
MeSH terms: Case Reports

The case of a 54-year-old cardiac patient is reported, who was admitted to hospital with a complaint of sudden pain in the legs associated with edema, paresthesia, and coldness. Arterial embolism of the lower limbs was diagnosed and the patient was submitted to bilateral embolectomy. The patient evolved with a burning sensation, hypersensitivity in the right leg, swelling, and difficulty bending and stretching the sole of the foot and the knee. A physical examination detected edema and increased tension in the anterior, lateral, and posterior compartments. Treatment using intermittent massage of the leg during the evaluation of the patient was chosen in an attempt to stimulate lymphatic and venous drainage. After a few minutes of stimulation, there was significant improvement in the pain and edema. In 40 minutes, there was total reduction of the pain in the posterior and lateral compartments and improvement of over 50% in the anterior compartment. After this, the patient started to bend the knee without pain and bend the sole of the foot with slight pain. On the following day, the patient was walking around the hospital ward without difficulty. It seems that intermittent massage is a therapeutic option in selected cases of compartment syndrome.
Suicide Attempt as the Presenting Symptom in a Patient with COVID-19: A Case Report from the United States
Authors: Nelson Telles-Garcia, Tyler Zahrli, Gaurav Aggarwal, Sakshi Bansal, Leonard Richards, Saurabh Aggarwal
Journal: Case Rep Psychiatry (2020)
MeSH terms: Case Reports

Coronavirus disease 2019 (COVID-19) has attained a pandemic status and is associated with a high morbidity and mortality. Social isolation, fear of ostracization, and illness itself and limited access to care can lead to worsening of mental illnesses. We report a case from the United States describing a young male with a suicidal attempt who was subsequently found to have COVID-19 infection. Further research is needed to evaluate potential factors for this unique association.
Fever, haematuria, and acute graft dysfunction in renal transplant recipients secondary to adenovirus infection: two case reports
Authors: J Ramírez, I C Bostock, A Martin-Onraët, S Calleja, A Sánchez-Cedillo, L A Navarro-Vargas, A L Noriega-Salas, O Martínez-Mijangos, N O Uribe-Uribe, M Vilatoba, B Gabilondo, L E Morales-Buenrostro, J Alberú
Journal: Case Rep Nephrol (2013)

We report two cases of adenoviral infection in kidney transplant recipients that presented with different clinical characteristics under similar demographic and posttransplant conditions. The first case presented with fever, gross haematuria, and acute graft dysfunction 15 days following renal transplantation. A graft biopsy, analyzed with immunohistochemistry, yielded negative results. However, the diagnosis was confirmed with blood and urine real-time PCR for adenovirus 3 days after the initial clinical manifestations. The immunosuppression dose was reduced, and ribavirin treatment was started, for which the patient quickly developed toxicity. Antiviral treatment allowed for transient response; however, a relapse occurred. The viral real-time PCR became negative upon immunosuppression reduction and administration of IVIG; graft function normalized. In the second case, the patient presented with fever and dysuria 1 month after transplantation. The initial imaging studies revealed graft enlargement and areas of hypoperfusion. In this case, the diagnosis was also confirmed with blood and urine real-time PCR for adenovirus 3 days after the initial clinical manifestations. Adenoviral nephritis was confirmed through a graft biopsy analyzed with light microscopy, immunohistochemistry, and PCR in frozen tissue. The immunosuppression dose was reduced, and IVIG was administered obtaining excellent clinical results along with a negative real-time PCR.
Clinical Characteristics of Children With COVID-19: A Meta-Analysis
Authors: Yudan Ding, Haohao Yan, Wenbin Guo
Journal: Front Pediatr (2020)
Keywords: sars-cov-2, children, clinical characteristics, coronavirus disease 2019, epidemic
MeSH terms: Systematic Review

Background: With the global spread of novel coronavirus disease 2019 (COVID-19), health care systems are facing formidable challenges. Scientists are conducting studies to explore this new disease, and numerous studies have been shared. However, the number of studies on children with COVID-19 is limited, and no meta-analysis of this group has been performed. Methods: A random-effect meta-analysis was conducted to determine the characteristics of children with COVID-19, including their demographic, epidemiological, clinical, laboratory, imaging features, and outcomes. Four databases and reference lists were screened. Percentages were calculated, and pooled prevalence with 95% confidence intervals (CIs) were reported. Results: Of 195 studies, 33 were selected, and 14 (371 patients) of them were included in the meta-analysis. Then, 19 case reports (25 patients) were summarized separately. Our meta-analysis revealed that 17.4% (95% CI = 9.1-27.3) of children had asymptomatic infection. Fever (51.2%, 95% CI = 40.2-62.2) and cough (37.0%, 95% CI = 25.9-48.8) were the most frequent symptoms. The prevalence of severe or critical illness was almost 0% (95% CI = 0-1.0). The most frequent abnormal laboratory findings, in pediatric patients, were leukopenia/lymphopenia (28.9%, 95% CI = 19.5-39.2) and increased creatine kinase (20.1%, 95% CI = 1.3-49.9). Ground-glass opacity was observed in the CT scan of 53.9% (95% CI = 38.4-68.7) of children diagnosed with pneumonia. Conclusions: Children are at a lower risk of developing COVID-19 and have a milder disease than adults. However, the evidence presented in this study is not satisfactory. Further investigations are urgently needed, and our data will be continuously updated.
Loving-kindness meditation (LKM) modulates brain-heart connection: An EEG case study
Authors: GoonFui Wong, Rui Sun, Jordana Adler, Kwok Wah Yeung, Song Yu, Junling Gao
Journal: Front Hum Neurosci (2022)
Keywords: lkm self-report, brain-heart connectivity, electroencephalogram (eeg), loving-kindness meditation (lkm), single-channel eeg, theta power
MeSH terms: Case Reports

Loving-Kindness Meditation (LKM) is an efficient mental practice with a long history that has recently attracted interest in the fields of neuroscience, medicine and education. However, the neural characters and underlying mechanisms have not yet been fully illustrated, which has hindered its practical usefulness. This study aimed to investigate LKM from varied aspects and interactions between the brain, the heart, and psychological measurements. A Buddhist monk practitioner was recruited to complete one 10-min LKM practice, in between two 10-min resting tasks (pre- and post-resting) per experimental run. Two sets of single-channel wearable EEG devices were used to collect EEG data (placed at Fz and Pz) and heart rate simultaneously. A self-report evaluation was conducted to repeatedly record the comprehensive performance of mind and body in each session. EEG data were preprossessed and analyzed by EEGlab. Further statistics were made by SPSS. Spectrum analysis showed a significant increase of theta power (Fz: t = -3.356; p = 0.002; Pz: t = -5.199; p < 0.001) and decrease of heart rate between pre- and post-resting tasks (t = 4.092, p < 0.001). The analysis showed a negative correlation between theta power and heart rate (Fz: r = -0.681, p < 0.001; Pz: r = -0.384, p = 0.008), and a positive correlation between theta power and the self-designed report score (Fz: r = 0.601, p < 0.001). These findings suggest that LKM is accompanied by significant neurophysiological changes, mainly an increase in slower frequencies, such as theta, and a decrease in heart rate. More importantly, subjective psychological assessments were also correlated with objective neurophysiological measurements in a long-term meditator participant. During LKM meditation, this connection was stronger. The results of this case report have promising implications for LKM practice in daily life.
A rare case of acute renal failure secondary to rhabdomyolysis probably induced by donepezil
Authors: Osman Zikrullah Sahin, Teslime Ayaz, Suleyman Yuce, Fatih Sumer, Serap Baydur Sahin
Journal: Case Rep Nephrol (2014)

Introduction. Acute renal failure (ARF) develops in 33% of the patients with rhabdomyolysis. The main etiologic factors are alcoholism, trauma, exercise overexertion, and drugs. In this report we present a rare case of ARF secondary to probably donepezil-induced rhabdomyolysis. Case Presentation. An 84-year-old male patient was admitted to the emergency department with a complaint of generalized weakness and reduced consciousness for two days. He had a history of Alzheimer's disease for one year and he had taken donepezil 5 mg daily for two months. The patient's physical examination revealed apathy, loss of cooperation, and decreased muscle strength. Laboratory studies revealed the following: urea: 128 mg/dL; Creatinine 6.06 mg/dL; creatine kinase: 3613 mg/dL. Donepezil was discontinued and the patient's renal function tests improved gradually. Conclusion. Rhabdomyolysis-induced acute renal failure may develop secondary to donepezil therapy.
Distal Femoral Varus Osteotomy for the Valgus Knee after Distal Femoral Growth Plate Fractures in Children: A Case Report
Authors: Ryo Kanto, Hiroshi Nakayama, Shinichi Yoshiya
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

An 18-year-old male suffered a valgus injury to the right knee due to a fall during a bigfoot race he took part in when he was 15 years old. He visited a different hospital at the age of 15. No obvious ligament injury or fracture was noted on MRI and physical examination. However, he gradually became aware of the valgus deformity of the right knee. Finally, he could not take part in a sports activity because of right knee pain. X-ray images at the age of 18 at an initial visit to our department showed severe valgus deformity with mechanical lateral distal femoral angle (mLDFA) of 71 degrees in contrast to left mLDFA which was 87 degrees. We performed a biplane-cut distal femoral varus osteotomy (DFO). Postoperative X-ray images showed an improvement of 86 degrees in mLDFA. Bony fusion was achieved six months after surgery, and he could play several sports activity.
Case Report: End-Stage Recurrent Glioblastoma Treated With a New Noninvasive Non-Contact Oncomagnetic Device
Authors: David S Baskin, Martyn A Sharpe, Lisa Nguyen, Santosh A Helekar
Journal: Front Oncol (2021)
Keywords: compassionate use treatment, contrast enhanced tumor, magnetic resonance imaging, oscillating magnetic fields, radiation-type tumor necrosis 2

Alternating electric field therapy has been approved for glioblastoma (GBM). We have preclinical evidence for anticancer effects in GBM cell cultures and mouse xenografts with an oscillating magnetic field (OMF) generating device. Here we report OMF treatment of end-stage recurrent glioblastoma in a 53-year-old man who had undergone radical surgical excision and chemoradiotherapy, and experimental gene therapy for a left frontal tumor. He experienced tumor recurrence and progressive enlargement with leptomeningeal involvement. OMF for 5 weeks was well tolerated, with 31% reduction of contrast-enhanced tumor volume and reduction in abnormal T2-weighted Fluid-Attenuated Inversion Recovery volume. Tumor shrinkage appeared to correlate with treatment dose. These findings suggest a powerful new noninvasive therapy for glioblastoma.
Deep Brain Stimulation: A Potential Treatment for Dementia in Alzheimer's Disease (AD) and Parkinson's Disease Dementia (PDD)
Authors: Qing Lv, Ailian Du, Wenshi Wei, Yuanyuan Li, Gailing Liu, Xiao Ping Wang
Journal: Front Neurosci (2018)
Keywords: alzheimer's disease, parkinson's disease dementia, deep brain stimulation, dementia, fornix, nucleus basalis of meynert
MeSH terms: Review

Damage to memory circuits may lead to dementia symptoms in Alzheimer's disease (AD) and Parkinson's disease dementia (PDD). Recently, deep brain stimulation (DBS) has been shown to be a novel means of memory neuromodulation when critical nodes in the memory circuit are targeted, such as the nucleus basalis of Meynert (NBM) and fornix. Potential memory improvements have been observed after DBS in patients with AD and PDD. DBS for the treatment of AD and PDD may be feasible and safe, but it is still preliminary. In this review, we explore the potential role of DBS for the treatment of dementia symptoms in AD and PDD. Firstly, we discuss memory circuits linked to AD and PDD. Secondly, we summarize clinical trials and case reports on NBM or fornix stimulation in AD or PDD patients and discuss the outcomes and limitations of these studies. Finally, we discuss the challenges and future of DBS for the treatment of AD and PDD. We include the latest research results from Gratwicke et al. (2017) and compare them with the results of previous relevant studies, and this would be a worthy update of the literature on DBS for dementia. In addition, we hypothesize that the differences between AD and PDD may ultimately lead to different results following DBS treatment.
Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency
Authors: Qi Tian, Yang Cao, Li Shu, Yongjun Chen, Ying Peng, Yaqin Wang, Yuanyuan Chen, Hua Wang, Xiao Mao
Journal: Front Genet (2021)
Keywords: mocs3, molybdenum cofactor deficiency, neurodevelopmental outcome, sulfite oxidase, whole exome sequencing
MeSH terms: Case Reports

Background: The molybdenum cofactor (Moco) deficiency in humans results in the inactivity of molybdenum-dependent enzymes and is caused by pathogenic variants in MOCS1 (Molybdenum cofactor synthesis 1), MOCS2 (Molybdenum cofactor synthesis 2), and GPHN (Gephyrin). These genes along with MOCS3 (Molybdenum cofactor synthesis 3) are involved in Moco biosynthesis and providing cofactors to Moco-dependent enzymes. Until now, there was no study to confirm that MOCS3 is a causative gene of Moco deficiency. Methods: Detailed clinical information was collected in the pedigree. The Whole-exome sequencing (WES) accompanied with Sanger sequencing validation were performed. Results: We described the clinical presentations of an infant, born to a non-consanguineous healthy family, diagnosed as having MOCS3 variants caused Moco deficiency and showing typical features of Moco deficiency including severe neurologic symptoms and cystic encephalomalacia in the brain MRI, resulting in neonatal death. Compound heterozygous variants in the MOCS3 gene were identified by WES. Positive sulfite and decreased levels of uric acid in plasma and urine were detected. Conclusion: To our knowledge, this is the first case of MOCS3 variants causing Moco deficiency. Our study may contribute to genetic diagnosis of Moco deficiency and future genetic counseling.
Neuroblastic Tumors of the Adrenal Gland in Elderly Patients: A Case Report and Review of the Literature
Authors: Philip Deslarzes, Reza Djafarrian, Maurice Matter, Stefano La Rosa, Carole Gengler, Maja Beck-Popovic, Tobias Zingg
Journal: Front Pediatr (2022)
Keywords: elderly patient, follow up, ganglioneuroblastoma, neuroblastic tumors, preoperative diagnosis, prognosis, staging, surgical and medical therapy
MeSH terms: Case Reports

Background:
Neuroblastic neoplasms (NN) include ganglioneuromas (GN), ganglioneuroblastomas (GNB), and neuroblastomas (NB). They generally arise in childhood from primitive sympathetic ganglion cells. Their incidence in adults, especially among elderly, is extremely low.
Case presentation:
This is the case of a 74-year-old woman with history of abdominal pain, weakness and night sweating since several months. Blood pressure was normal. CT-scan showed a 10 cm left adrenal mass, without other pathologic findings. An open left-sided adrenalectomy was performed. Recovery was uneventful with hospital length of stay of 8 days. Based on morphological, immunohistochemical, and molecular features the diagnosis was a nodular GNB. A positron emission tomography (PET) performed 6 weeks after the resection did not show any residual tumor or distant metastases. The patient was followed-up with annual clinical and radiological exams.
Conclusion:
This case presentation, associated with a review of the literature, illustrates the importance to include NN in the preoperative differential diagnosis of adrenal tumors in adults and highlights the need for multidisciplinary patient work-up and management.
Posterior mediastinal hematoma after a fall from standing height: a case report
Authors: J M Josse, A Ameer, S Alzaid, A Arrowaili, M Ben-Ely, D L Decklebaum, P Fata, T Razek, K Khwaja
Journal: Case Rep Surg (2012)
MeSH terms: Case Reports

Posterior Mediastinal Hematomas (PMHs) secondary to a fall from standing height are uncommon, with only one previous case reported in the literature. We describe a case of a 78-year-old male with multiple medical comorbidities, who was transferred to Montreal General Hospital (MGH) with a posterior mediastinal hematoma (PMH) after sustaining a fall from standing height. On initial assessment, the patient was hemodynamically stable and complained of mild chest pain, dyspnea, fatigue, and diaphoresis. The patient's airway was secured via endotracheal intubation fearing impending respiratory compromise secondary to an enlarging PMH. The patient was admitted to ICU where over the next 3 days he was managed conservatively via careful monitoring of his hemodynamic and hematologic indices. Repeat CT scanning indicated reduction in size of the PMH. The patient was discharged on hospital day eight. This case describes the assessment, evaluation, and conservative management of PMH in a complicated patient receiving prior anticoagulation. A review of the literature regarding the epidemiology of PMH and the management of both unstable and stable PMHs is also presented.
Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review
Authors: Daria Morgacheva, Alexandra Daks, Anna Smirnova, Aleksandr Kim, Daria Ryzhkova, Lubov Mitrofanova, Alena Staliarova, Evgeniya Omelina, Alexey Pindyurin, Olga Fedorova, Oleg Shuvalov, Alexey Petukhov, Yulia Dinikina
Journal: Front Pediatr (2022)
Keywords: central nervous system tumors, next-generation sequencing, oncology, pediatric cancer, primary leptomeningeal medulloblastoma
MeSH terms: Case Reports

Medulloblastoma is one of the most common pediatric central nervous system malignancies worldwide, and it is characterized by frequent leptomeningeal metastasizing. We report a rare case of primary leptomeningeal medulloblastoma of an 11-year-old Caucasian girl with a long-term disease history, non-specific clinical course, and challenges in the diagnosis verification. To date, 4 cases of pediatric primary leptomeningeal medulloblastoma are reported, and all of them are associated with unfavorable outcomes. The approaches of neuroimaging and diagnosis verification are analyzed in the article to provide opportunities for effective diagnosis of this disease in clinical practice. The reported clinical case of the primary leptomeningeal medulloblastoma is characterized by MR images with non-specific changes in the brain and spinal cord and by 18FDG-PET/CT images with diffuse heterogeneous hyperfixation of the radiopharmaceutical along the whole spinal cord. The immunohistochemistry and next-generation sequencing analyses of tumor samples were performed for comprehensive characterization of the reported clinical case.
Multiple Distinctive Demyelinating Lesions Caused by Eosinophilic Granulomatosis With Polyangiitis: Case Report and Literature Review
Authors: Dingkang Xu, Hongen Xu, Fang Wang, Guoqing Wang, Qingjie Wei, Shixiong Lei, Qiang Gao, Qi Zhang, Fuyou Guo
Journal: Front Neurol (2019)
Keywords: cns involvement, dna sequencing, egpa, hla, snp, differential diagnosis, neurosurgery
MeSH terms: Case Reports

Eosinophilic granulomatosis with polyangiitis (EGPA) is an extremely rare rheumatic immune disease characterized by vasculitis of small- and medium-sized blood vessels. Central nervous system (CNS) involvement frequently consists of cerebrovascular disease; a manifestation with multiple demyelinating lesions has never been reported in detail. This report describes a 38-year-old man, who presented with progressive memory deterioration and underwent microsurgery; EGPA was subsequently confirmed. Unique clinical and radiological features as well as immunohistological outcomes and DNA sequencing revealed a potential disease-associated human leukocyte antigen (HLA) type, and single-nucleotide polymorphisms (SNPs) are described for this uncommon case. Although EGPA rarely involves the CNS, this differential diagnosis should be considered when patients present with a history of nasosinusitis, elevated eosinophil percentage, clinical pulmonitis, and neurological manifestations. Microsurgery is necessary for precise diagnosis and effective treatment.
Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome
Authors: Meiping Wang, Jinmei Lu, Xiaoxi Wang, Xiaoqun Ba, Dengchang Wu, Jianfang Zhang, Jiajia Zhou, Kang Wang
Journal: Front Neurol (2022)
Keywords: bevacizumab, labrune syndrome, epilepsy, late-onset, treatment
MeSH terms: Case Reports

Labrune syndrome (LS) is caused by SNORD118 gene mutations with a particular neuroimaging of white matter disease, intracranial calcification, and cysts. There was no effective treatment until now. An 18-year-old man with infancy-onset LS was first treated with vascular endothelial growth factor (VEGF) inhibitor Bevacizumab for 1 year, resulting in significant clinical and radiological improvements. We adopted a similar regimen in a patient with late-onset LS and demonstrated moderate cognitive improvements but without changes in imaging. As such, Bevacizumab could potentially be clinically effective in adult-onset LS with great safety.
Rheumatoid Arthritis and Familial Mediterranean Fever or Sacroiliitis Accompanied by FMF
Authors: Ali Sahin, Alparslan Yetişgin, Mehtap Sahin
Journal: Case Rep Rheumatol (2013)

The coexistence of rheumatoid arthritis (RA) and familial Mediterranean fever (FMF) has been rarely seen in case reports in the literature. Herein, we wanted to present a patient who had been followed up and treated as RA, but on investigation we concluded that he really had FMF and its joint complaints associated with sacroiliitis. Recovery was achieved by etanercept administered as if he was an RA patient.