OpenMed/multicare-articles huggingface dataset:
Super-Refractory Status Epilepticus Treated with High Dose Perampanel: Case Series and Review of the Literature
Authors: Christopher R Newey, Naresh Mullaguri, Stephen Hantus, Vineet Punia, Pravin George
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

Introduction:
Acute symptomatic seizures are frequent in the critically ill patient and can be difficult to treat. The novel anticonvulsant perampanel may be effective in the treatment of status epilepticus considering its mechanism of action of being an AMPA antagonist. We present four cases of super refractory status epilepticus treated with high dose perampanel.
Method:
Case report.
Cases:
Four patients were treated with perampanel for their refractory status epilepticus. One patient had new onset refractory status epilepticus of unknown etiology. Three other patients had status epilepticus as a result of their cardiac arrest. Two of the cardiac arrest patients had myoclonus. In all patients, the additional of perampanel resulted in a reduction of seizure burden without affecting hemodynamics or hepatic or renal function.
Conclusion:
Perampanel may be effective in the treatment of super-refractory status epilepticus of varying etiologies. A larger, prospective study is needed to further assess this therapy.
Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations
Authors: Noriko Namatame-Ohta, Shuntaro Morikawa, Akie Nakamura, Kumihiro Matsuo, Masahide Nakajima, Kazuhiro Tomizawa, Yusuke Tanahashi, Toshihiro Tajima
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Almost 90% of nephrogenic diabetes insipidus (NDI) is caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2) on the X chromosome. Herein, we reported clinical and biochemical parameters in four cases of three unrelated Japanese families and analyzed the status of the AVPR2. Two of the four patients had poor weight gain. However, in the male and female sibling cases, neither had poor weight gain while toddlers, but in the male sibling, episodes of recurrent fever, polyuria, and polydipsia led to the diagnosis of NDI at 4 years of age. Analysis of AVPR2 identified two nonsense mutations (c.299_300insA; p.K100KfsX91 and c.296G > A; p.W99X) and one missense mutation (c.316C > T; p.R106C). These mutations were previously reported. The patient with c.316C > T; p.R106C had milder symptoms consistent with previous reports. Of the familial cases, the sister was diagnosed as having NDI, but a skewed X-inactivation pattern in her peripheral blood lymphocytes was not identified. In conclusion, our study expands the spectrum of phenotypes and characterized mutations in AVPR2 in NDI.
Metastatic Lesion of the Tibia from Renal Cell Carcinoma
Authors: Piotr Młodożeniec, Krzysztof Balawender, Mateusz Zasadny
Journal: Case Rep Oncol Med (2021)
MeSH terms: Case Reports

Introduction:
Renal cell carcinoma is responsible for 3% of all cancers, with the highest incidence occurring in Western countries. Additionally, in patients with osseous metastasis, only 3% occur within the tibia. Rarely, a patient presents with a primary complaint of lower limb pain in advanced metastatic renal cell carcinoma. Case Presentation. The patient arrived at the emergency department with a primary complaint of left ankle pain. Ankle X-rays demonstrated a lytic lesion involving the medial malleolus with possible metastatic disease. CT scan confirmed a tumor within the right kidney. The patient was treated with a laparoscopic radical nephrectomy with histopathologic confirmation of clear cell renal cell carcinoma. Biopsy was then performed of the tibial lesion, confirming metastatic clear cell renal cell carcinoma. The tibial lesion was treated with local radiotherapy, and because of the progression of the tibia lesion, a decision was made to amputate the leg. Additionally, the patient was enrolled to sunitinib treatment and was disease free at one year of follow-up. 13 months after diagnosis of cancer, she was suffering a major stroke of the brain that caused her to die.
Conclusion:
The treatment of patients with osseous metastases of renal cell cancer depends on the number of metastases, location of metastases, and overall health of the patient. We performed an overview of available literature and provided a summary regarding the use of cytoreductive nephrectomy, local therapy, target therapy, and bone-targeting agents in the treatment of metastatic renal cell cancer.
Tumor Necrosis Factor-Alpha Signaling May Contribute to Chronic West Nile Virus Post-infectious Proinflammatory State
Authors: A Arturo Leis, Marie F Grill, Brent P Goodman, Syed B Sadiq, David J Sinclair, Parminder J S Vig, Fengwei Bai
Journal: Front Med (Lausanne) (2020)
Keywords: west nile virus, cytokines, fever, immunity, neuroinflammation, neuroinvasive disease, tumor necrosis factor
MeSH terms: Case Reports

Background: West Nile virus (WNV) causes a spectrum of human disease ranging from a febrile illness (WNV fever) to severe neuroinvasive disease (meningitis, encephalitis, acute flaccid paralysis). Since WNV gained entry into North America in 1999, clinicians caring for WNV survivors have observed persistent neurological symptoms occurring long-after the production of neutralizing antibodies and clearance of the virus. Accordingly, alternative pathogeneses other than direct viral invasion have been hypothesized to explain these post-infectious symptoms. The dominant hypothesis is that antiviral inflammatory responses triggered initially to clear WNV may persist to promote a post-infectious proinflammatory state. Methods: In 4 serologically-confirmed WNV patients with persistent post-infectious symptoms (3 WNV fever, 1 neuroinvasive disease), we ordered a comprehensive cytokine panel at weeks 8, 10, 12, and 36 months post-onset of illness, respectively, to better understand the pathophysiology of the protracted symptoms. Results: All patients had abnormally elevated tumor necrosis factor alpha (TNF-α), a major molecule triggering antiviral cytokines and chronic inflammation in many human autoimmune diseases, but heretofore not reported to be upregulated in human WNV infection. Three patients also had elevations of other proinflammatory proteins. Major symptoms included fatigue, arthralgias, myalgias, generalized or multifocal pain or weakness, imbalance, headaches, cognitive problems, and symptoms of dysautonomia. Conclusion: The findings provide support for an extended post-infectious proinflammatory state that may contribute to chronic inflammation and long-term morbidity in some WNV survivors and further suggest that TNF-α may play a pathogenic role in initiating this inflammatory environment. Clinical trials may be warranted to determine if TNF-α inhibitors or other immunosuppressive agents can improve patient outcomes.
Genomic Feature of a Rare Case of Mix Small-Cell and Large-Cell Neuroendocrine Lung Carcinoma: A Case Report
Authors: Youcai Zhu, Feng Zhang, Dong Yu, Fang Wang, Manxiang Yin, Liangye Chen, Chun Xiao, Yueyan Huang, Feng Ding
Journal: Front Oncol (2022)
Keywords: fish, met, case report, genomic feature, large-cell neuroendocrine lung carcinoma (lcnec), small cell lung cancer (sclc)
MeSH terms: Case Reports

Background:
Cases of both of small- (SCLC) and large-cell neuroendocrine lung carcinoma (LCNEC) were rarely reported. Although typical cases are morphologically distinct, the distinction between LCNEC and SCLC is still controversial, with some LCNECs showing close morphologies with SCLC. Here, we reported on a patient who had tumor with a mix of SCLC and LCNEC and uncovered these components' histological and genomic features.
Case presentation:
A 59-year-old man was diagnosed with lung cancer and had resection surgery in our hospital. The H&E and immunohistochemistry staining revealed that the tumor had 30%-35% LCNEC and 65%-70% SCLC cells. The whole-exome sequencing (WES) identified no potentially actionable alteration in the tumor sample but found five alterations all with allele frequency over 90%, including TP53 p.R273H, MYH8 p.Q1814K, SLC17A6 p.W505L, PTPN5 p.M40I, and RB1 p.L267X. The genomic results supported that these two different components shared a similar dominant clonal origin. Furthermore, fluorescence in situ hybridization analysis revealed that the LCNECs have a higher copy number of MET than the SCLC component while without notable difference in the copy number of HER2 and TP53. Chemotherapy with pemetrexed and carboplatin was administrated for two cycles after the surgery. Although the chest CT showed remission in the lung, he was diagnosed with bone metastasis in 1 year later. Then, he received chemotherapy with etoposide and carboplatin but had severe side effect, leading to the discontinuation of the regime. Unfortunately, he returned to the local hospital with supportive care and died shortly after.
Conclusion:
Based on these observations, we proposed that LCNEC and SCLC components in this patient may have a common clonal origin with dual mutations in TP53 and RB1, while the chromosome instability may cause multiple independent conversion that leads to LCNEC or SCLC morphologies.
Integrated RNA-Seq and sRNA-Seq Analysis Identifies Chilling and Freezing Responsive Key Molecular Players and Pathways in Tea Plant (Camellia sinensis)
Authors: Chao Zheng, Lei Zhao, Yu Wang, Jiazhi Shen, Yinfei Zhang, Sisi Jia, Yusheng Li, Zhaotang Ding
Journal: PLoS One (2015)
MeSH terms: Camellia sinensis / genetics, Gene Expression Regulation, Plant / genetics, Gene Regulatory Networks / genetics, RNA, Plant / genetics, Tea / genetics, Research Support, Non-U.S. Gov't, Freezing, Gene Expression Profiling / methods, Glycoside Hydrolases / genetics, High-Throughput Nucleotide Sequencing / methods, MicroRNAs / genetics, Plant Growth Regulators / genetics, RNA, Messenger / genetics, MicroRNAs, Plant Growth Regulators, RNA, Messenger, RNA, Plant, Tea, Glycoside Hydrolases, beta-primeverosidase

Tea [Camellia sinensis (L) O. Kuntze, Theaceae] is one of the most popular non-alcoholic beverages worldwide. Cold stress is one of the most severe abiotic stresses that limit tea plants' growth, survival and geographical distribution. However, the genetic regulatory network and signaling pathways involved in cold stress responses in tea plants remain unearthed. Using RNA-Seq, DGE and sRNA-Seq technologies, we performed an integrative analysis of miRNA and mRNA expression profiling and their regulatory network of tea plants under chilling (4℃) and freezing (-5℃) stress. Differentially expressed (DE) miRNA and mRNA profiles were obtained based on fold change analysis, miRNAs and target mRNAs were found to show both coherent and incoherent relationships in the regulatory network. Furthermore, we compared several key pathways (e.g., 'Photosynthesis'), GO terms (e.g., 'response to karrikin') and transcriptional factors (TFs, e.g., DREB1b/CBF1) which were identified as involved in the early chilling and/or freezing response of tea plants. Intriguingly, we found that karrikins, a new group of plant growth regulators, and β-primeverosidase (BPR), a key enzyme functionally relevant with the formation of tea aroma might play an important role in both early chilling and freezing response of tea plants. Quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR) analysis further confirmed the results from RNA-Seq and sRNA-Seq analysis. This is the first study to simultaneously profile the expression patterns of both miRNAs and mRNAs on a genome-wide scale to elucidate the molecular mechanisms of early responses of tea plants to cold stress. In addition to gaining a deeper insight into the cold resistant characteristics of tea plants, we provide a good case study to analyse mRNA/miRNA expression and profiling of non-model plant species using next-generation sequencing technology.
Radioiodine therapy under rhTSH for follicular thyroid carcinoma with sellar metastasis and non-rising TSH
Authors: Sameer Kamalakar Taywade, Nishikant Avinash Damle, Kunal Kumar, Piyush Ranjan, Shipra Aggarwal, Chandrasekhar Bal, Amandeep Kumar, Devasenathipathi Kandasamy
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Metastasis to the pituitary gland/sella turcica is an uncommon complication of thyroid cancer. Treating this condition is a challenge in the setting of pituitary insufficiency due to this lesion, and recombinant human thyroid-stimulating hormone (rhTSH) stimulation becomes critically essential. We present a rare case of an 82-year-old female patient with follicular carcinoma of the thyroid with metastasis to the sella turcica in addition to multiple skeletal and lung metastases. MRI of the brain showed a hypointense suprasellar lesion on T 1 weighted images. The thyroid-stimulating hormone level remained persistently low even 4 weeks after thyroidectomy. A whole-body pertechnetate scan could not localize any abnormal tracer uptake and radioactive iodine uptake was also persistently low. The patient did not have symptoms related to pituitary involvement but TSH and early morning adrenocorticotrophic hormone levels were low. After thorough discussion with the neurosurgeon and radiotherapist, it was decided to start the patient on high-dose radioiodine treatment. Persistently low TSH level was a concern for starting radioiodine therapy. In view of this clinical context, rhTSH stimulation was used to achieve adequate TSH levels prior to radioiodine therapy. Subsequently, the patient was treated with 3.7 GBq (100 mci) of high-dose radioiodine. A post-therapy scan demonstrated radioiodine concentration in the thyroid bed remnant, multiple skeletal lesions and the sellar region. Thus, the use of rhTSH was critical in the management of this patient. It helped in radioiodine treatment by stimulating radioiodine uptake in the remnant and at the metastatic sites.
Osteomyelitis Infection of Mycobacterium marinum: A Case Report and Literature Review
Authors: Hao H Nguyen, Nada Fadul, Muhammad S Ashraf, Dawd S Siraj
Journal: Case Rep Infect Dis (2015)

Mycobacterium marinum (M. marinum) is a ubiquitous waterborne organism that grows optimally at temperatures around 30°C. It is a nontuberculous Mycobacterium found in nonchlorinated water with worldwide prevalence. It is the most common atypical Mycobacterium that causes opportunistic infection in humans. M. marinum can cause superficial infections and localized invasive infections in humans, with the hands being the sites most frequently affected. It can cause skin lesions, which are either single, papulonodular lesions, confined to an extremity, or may resemble cutaneous sporotrichosis. This infection can also cause deeper infections including tenosynovitis, bursitis, arthritis, and osteomyelitis. Disseminated infections and visceral involvements have been reported in immunocompromised patients. We here report a case of severe deep soft tissue infection with necrotizing fasciitis and osteomyelitis of the left upper extremity (LUE) caused by M. marinum in an immunocompromised patient.
Nontraumatic Myositis Ossificans of Hip: A Case Presentation
Authors: Yunus Oc, Muhammed Sefa Ozcan, Hasan Basri Sezer, Bekir Eray Kilinc, Osman Tugrul Eren
Journal: Case Rep Orthop (2016)

In most of the cases trauma is the leading etiology and the nontraumatic myositis ossificans (MO) is a very rare condition. We present an MO case without any trauma occurring. A 36-year-old female patient with a history of pain and restriction of range of motion of the left hip was admitted. Hip motions were restricted with 10-60° of flexion, 10° of internal rotation, 20° of external rotation, 10° of abduction, and 10° of adduction. There was no history of trauma and familial involvement. The biopsy of the lesion revealed mature bone tissue confirming our diagnosis of MO. The mass was removed surgically and postoperatively the patient was treated with a single dose radiotherapy with 800 gyc. MO is a benign and well differentiated bone formation or in other words heterotopic ossification of the muscle tissue. It has a prevalence of less than 1/1 million. Trauma is the most frequent etiological factor seen in almost 60-75% of the cases. Nontraumatic MO is very rare in the literature. Our patient had no history of trauma or familial involvement. Combination of the surgical excision with radiotherapy in the treatment of the MO of the hip may give satisfactory results.
Pseudocyst in Neck: A Case Report on Rare Complication of Ventriculoperitoneal Shunt
Authors: B Nitin, Manish Gupta, Anshul Singh
Journal: Case Rep Otolaryngol (2021)
MeSH terms: Case Reports

Introduction:
Ventriculoperitoneal shunt is a common neurosurgical procedure, for the definitive management of hydrocephalus. Shunt failures may occur due to various causes but are usually due to infections in adults and catheter occlusion in the paediatric population. Case Report. The 13-year-old girl presented with a right lateral neck swelling. In detailed history, she was found to be an old case of ventriculoperitoneal shunt. The clinical examination and radiological investigation revealed proximal dislodgment of the stent from the cranium, causing persistent cerebrospinal fluid (CSF) leak and pseudocyst formation in the neck.
Conclusion:
The case highlights CSF pseudocyst formation as a rare differential for lateral neck swellings.
Confusional State in HaNDL Syndrome: Case Report and Literature Review
Authors: Sarah Nelson
Journal: Case Rep Neurol Med (2013)

The syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis (HaNDL syndrome) is a self-limited condition. Confusional states are uncommonly reported as a clinical manifestation of this syndrome. Here, I report a 76-year-old female who presented with headache, confusion, and agitation with a mild CSF lymphocytosis. Other workup to determine the cause of her altered mental status was otherwise negative. The literature available in the English language on HaNDL syndrome is reviewed, including its history, pathophysiology, possible associations with migraine and stroke, and previously reported cases of confusional states in this syndrome. While HaNDL syndrome has been a described entity since the 1980s, its pathophysiology has yet to be clearly defined.
Orthodontic Protocol Using Mini-Implant for Class II Treatment in Patient with Special Needs
Authors: Fernando Pedrin Carvalho Ferreira, Anderson Paulo Barbosa Lima, Eliana de Cássia Molina de Paula, Ana Claudia de Castro Ferreira Conti, Danilo Pinelli Valarelli, Renata Rodrigues de Almeida-Pedrin
Journal: Case Rep Dent (2016)

Improving facial and dental appearance and social interaction are the main factors for special needs (SN) patients to seek orthodontic treatment. The cooperation of SN patients and their parents is crucial for treatment success. Objective. To show through a case report the satisfactory results, both functional and esthetic, in patients with intellectual disability, congenital nystagmus, and severe scoliosis. Materials Used. Pendulum device with mini-implants as anchorage unit. Results. Improvement of facial and dental esthetics, correction of Class II malocclusion, and no root resorption shown in the radiographic follow-up. Conclusion. Knowing the limitations of SN patients, having a trained team, motivating and counting on the cooperation of parents and patients, and employing quick and low-cost orthodontic therapy have been shown to be the essential factors for treatment success.
Sleep Apnea Syndrome after Posterior Fossa Surgery: A Case of Acquired Ondine's Curse
Authors: Elnaz Faraji Rad, Mohammad Faraji Rad, Shahram Amini, Reza Zare
Journal: Iran J Otorhinolaryngol (2015)
Keywords: central hypoventilation syndrome, ondine’s curse, posterior fossa surgery
MeSH terms: Case Reports

Introduction:
Ondine's Curse is a catastrophic but rare condition in adults. It is referred to as a congenital or acquired condition, in which the patient cannot breathe automatically while asleep. Acquired causes of this disease can be any cause affecting the ventrolateral part of the medulla, which is considered to be the breathing center in humans. Case report:
A 51-year-old woman, with ataxia and the symptoms and signs of rising Intra-Cranial Pressure, who underwent ventriculoperitoneal shunting and removal of tumour, developed episodic apnea during sleep after surgery and hypercapnia when awake. In her post-operative CT scan, some fine spots of hypodensity in the left lateral part of the medulla were observed. She was managed pharmacologically and underwent tracheotomy. After 50 days, she was discharged from the hospital when she was able to breathe normally.
Conclusion:
Having experience with this condition after resection of a fourth ventricle tumor, it was found that Ondine's Curse can be considered as one of the complications of posterior fossa surgery and is curable by proper management.
Case report: Bilateral double beta peak activity is influenced by stimulation, levodopa concentrations, and motor tasks, in a Parkinson's disease patient on chronic deep brain stimulation
Authors: Giulia Giannini, Luca Baldelli, Gaetano Leogrande, Ilaria Cani, Paolo Mantovani, Giovanna Lopane, Pietro Cortelli, Giovanna Calandra-Buonaura, Alfredo Conti
Journal: Front Neurol (2023)
Keywords: parkinson’s disease, beta band frequency, case report, deep brain stimulation, local field potentials
MeSH terms: Case Reports

Introduction:
Subthalamic (STN) local field potentials (LFPs) in the beta band are considered potential biomarkers for closed-loop deep brain stimulation (DBS) in Parkinson's disease (PD). The beta band is further dissected into low-and high-frequency components with somewhat different functions, although their concomitance and association in the single patient is far to be defined. We present a 56-year-old male PD patient undergoing DBS showing a double-beta peak activity on both sides. The aim of the study was to investigate how low-and high-beta peaks were influenced by plasma levodopa (L-dopa) levels, stimulation, and motor performances.
Methods:
A systematic evaluation of raw LFPs, plasma L-dopa levels, and motor tasks was performed in the following four conditions: OFF medications/ON stimulation, OFF medications/OFF stimulation, ON medications/OFF stimulation, and ON medications/ON stimulation.
Results:
The analysis of the LFP spectra suggests the following results: (1) the high-beta peak was suppressed by stimulation, while the low-beta peak showed a partial and not consistent response to stimulation; (2) the high-beta peak is also influenced by plasma L-dopa concentration, showing a progressive amplitude increment concordant with plasma L-dopa levels, while the low-beta peak shows a different behavir; and (3) motor performances seem to impact beta peaks behavior.
Conclusion:
This single exploratory case study illustrates a complex behavior of low-and high-beta peaks in a PD patient, in response to stimulation, L-dopa plasma levels, and motor performances. Our results suggest the importance to investigate patient-specific individual LFP patterns in view of upcoming closed-loop stimulation.
Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis
Authors: Mubalake Yilihamu, Xiaolu Liu, Xiaoxuan Liu, Yong Chen, Dongsheng Fan
Journal: Front Neurol (2022)
Keywords: fig4, amyotrophic lateral sclerosis, case report, genetics, mutation
MeSH terms: Case Reports

Heterozygous autosomal-dominant FIG4 mutations are associated with amyotrophic lateral sclerosis (ALS). Here, we describe a variant of the FIG4 gene (c.350dupC, p.Asp118GlyfsTer9) in a patient with rapidly progressive ALS that has not previously been reported in ALS or primary lateral sclerosis (PLS) patients before. Our study provides further information on the genotypes and phenotypes of patients with FIG4 mutations.