OpenMed/multicare-articles huggingface dataset:
Stimulus- and Neural-Referred Visual Receptive Field Properties following Hemispherectomy: A Case Study Revisited
Authors: Hinke N Halbertsma, Koen V Haak, Frans W Cornelissen
Journal: Neural Plast (2019)
MeSH terms: Vision, Ocular / physiology, Visual Cortex / physiopathology, Visual Fields / physiology, Visual Pathways / physiology, Research Support, Non-U.S. Gov't, Brain Mapping / methods, Female, Hemispherectomy / methods, Humans, Photic Stimulation / methods, Retina / physiopathology, Young Adult

Damage to the visual system can result in (a partial) loss of vision, in response to which the visual system may functionally reorganize. Yet the timing, extent, and conditions under which this occurs are not well understood. Hence, studies in individuals with diverse congenital and acquired conditions and using various methods are needed to better understand this. In the present study, we examined the visual system of a young girl who received a hemispherectomy at the age of three and who consequently suffered from hemianopia. We did so by evaluating the corticocortical and retinocortical projections in the visual system of her remaining hemisphere. For the examination of these aspects, we analyzed the characteristics of the connective fields ("neural-referred" receptive fields) based on both resting-state (RS) and retinotopy data. The evaluation of RS data, reflecting brain activity independent from visual stimulation, is of particular interest as it is not biased by the patient's atypical visual percept. We found that, primarily when the patient was at rest, the connective fields between V1 and both early and late visual areas were larger than normal. These abnormally large connective fields could be a sign either of functional reorganization or of unmasked suppressive feedback signals that are normally masked by interhemispheric signals. Furthermore, we confirmed our previous finding of abnormal retinocortical or "stimulus-referred" projections in both early and late visual areas. More specifically, we found an enlarged foveal representation and smaller population receptive fields. These differences could also be a sign of functional reorganization or rather a reflection of the interruption visual information that travels, via the remainder of the visual pathway, from the retina to the visual cortex. To conclude, while we do find indications for relatively subtle changes in visual field map properties, we found no evidence of large-scale reorganization-even though the patient could have benefitted from this. Our work suggests that at a later developmental stage, large-scale reorganization of the visual system no longer occurs, while small-scale properties may still change to facilitate adaptive processing and viewing strategies.
Simultaneous Occurrence of Colonic Mucosa-Associated Lymphoid Tissue (MALT) Lymphoma (MALToma) and Lung Cancer
Authors: Monjur Ahmed
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Colonic MALToma accounts for 2.5% of all MALTomas. MALToma can be associated with certain chronic infections, autoimmune disorders, Waldenstrom's macroglobulinemia, and old age. Synchronous MALTomas can occur in multiple organs. Simultaneous occurrence of colonic MALToma and colon cancer has been reported. A case of colonic MALToma and lung cancer is described here.
Iceman Survived due to Cooling Device
Authors: M Roser, F Martens, C Storm
Journal: ISRN Cardiol (2011)
MeSH terms: Case Reports

Although mild hypothermia treatment is part of the standard postresuscitation care today, no standard method for treatment of accidental severe hypothermia has been yet established. Different strategies including invasive and noninvasive methods have been described in the literature. We present the case of a 75-year-old man with accidental severe hypothermia (23°C) and demonstrate that using a surface cooling device with automatic controlled temperature feedback mechanism (ArcticSun2000 Medivance, Louisville, Colorado, USA) is an effective and safe method for controlled rewarming in this life-threatening setting.
Patient with Crouzon Syndrome Treated with Modified Le Fort III Osteotomy without Previous Orthodontic Treatment: Case Report and a Review of the Literature
Authors: Farnoosh Mohammadi, Afrooz Javanmard, Hamid Mojtahedi
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Crouzon syndrome is the most common type of craniofacial dysostosis anomaly which presents a great challenge for clinicians since birth. Multiple synostoses in the sutures of the cranial base in this syndrome result in the hypoplasia of the midface, shallow orbits, a short nasal dorsum, maxillary hypoplasia, and, in severe cases, obstruction of the upper airways. Apart from esthetic and functional problems, these patients suffer from various psychological problems which mandate correction of midface deformities at younger ages. The aim of this report is to describe the case of a 26-year-old female patient with Crouzon syndrome displaying severe midface hypoplasia and proptosis with no history of orthodontic treatment, who was treated with modified Le Fort III osteotomy with a coronal and intraoral approach without periocular incisions.
Pathological complete response to long-course neoadjuvant alectinib in lung adenocarcinoma with EML4-ALK rearrangement: report of two cases and systematic review of case reports
Authors: Liang Shi, Shuhong Gao, Li Tong, Qiyi Meng, Shijie Zhou, Daping Yu, Yujie Dong, Zhe Liu
Journal: Front Oncol (2023)
Keywords: alk rearrangement, alectinib, lung adenocarcinoma, neoadjuvant therapy, pathological complete response
MeSH terms: Systematic Review

Objective:
Despite the promising efficacy and tolerability of alectinib in treating advanced anaplastic lymphoma kinase (ALK) positive non-small cell lung cancer (NSCLC), the role of alectinib in neoadjuvant setting remains understudied in ALK-rearranged resectable lung cancer.
Methods:
Our report concerns two cases of early-stage NSCLC with complete pathologic responses to off-label use of long-course neoadjuvant alectinib. PubMed, Web of Science, and Cochrane Library were searched comprehensively for ALK-positive resectable cases with neoadjuvant alectinib. The papers were chosen following PRISMA recommendations. Seven cases from the literature and two present cases were evaluated.
Results:
Two cases with stage IIB (cT3N0M0) EML4-ALK lung adenocarcinoma received long-course (more than 30 weeks) of neoadjuvant alectinib followed by R0 lobectomy with the complete pathological response. In our systematic review, 74 studies were included in the original search. Application of the screening criteria resulted in 18 articles deemed eligible for full-text reading. Following the application of the exclusion criteria, out of six papers, seven cases were selected for inclusion in the final analysis and were included in the systematic review. None of the studies were included in the quantitative analysis.
Conclusion:
We report two cases of lung adenocarcinoma with resectable ALK-positive that achieved pCR with long-course neoadjuvant alectinib. Our cases and a systematic review of the literature support the feasibility of neoadjuvant alectinib treatment for NSCLC. However, large clinical trials must be conducted in the future to determine the treatment course and efficacy of the neoadjuvant alectinib modality.
Systematic review registration:
https://www.crd.york.ac.uk/PROSPERO, identifier CRD42022376804.
Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease
Authors: Venu T Tadiboyina, Dora M Liu, Brooke A Miskie, Jian Wang, Robert A Hegele
Journal: Lipids Health Dis (2005)
MeSH terms: Azetidines / therapeutic use, Cholesterol Ester Storage Disease / drug therapy, Dyslipidemias / drug therapy, Lovastatin / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Drug Therapy, Combination, Dyslipidemias / genetics, Ezetimibe, Humans, Lipoproteins / blood, Male, Molecular Sequence Data, Sterol Esterase / genetics, Azetidines, Lipoproteins, Lovastatin, LIPA protein, human, Sterol Esterase, Ezetimibe

Background:
Cholesterol ester storage disease (CESD) is an autosomal recessive illness that results from mutations in the LIPA gene encoding lysosomal acid lipase. CESD patients present in childhood with hepatomegaly and dyslipidemia characterized by elevated total and low-density lipoprotein cholesterol (LDL-C), with elevated triglycerides and depressed high-density lipoprotein cholesterol (HDL-C). Usual treatment includes a low fat diet and a statin drug.
Results:
In an 18-year old with CESD, we documented compound heterozygosity for two LIPA mutations: a novel frameshift nonsense mutation and a deletion of exon 8. The patient had been treated with escalating doses of lovastatin for approximately 80 months, with approximately 15% decline in mean LDL-C. The addition of ezetimibe 10 mg to lovastatin 40 mg resulted in an additional approximately 16% decline in mean LDL-C.
Conclusion:
These preliminary anecdotal findings in a CESD patient with novel LIPA mutations support the longer term safety of statins in an adolescent patient and provide new data about the potential efficacy and tolerability of ezetimibe in this patient group.
The Curious Case of Lip Tongue Fusion: A Consequence of Suboptimal Oral Care
Authors: Jimmy Xu, Prateek Biyani, Andrew Rajkumar, Robert Orr
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Oral care is an often difficult and an unappreciated part of hospital life. Patients who are unable to provide their own care rely on assistance from hospital personnel. Most sequelae from suboptimal oral care often present over months if not years, in the form of dental caries and periodontal disease. We present an exception, where a 66-year-old patient who experienced widespread ulceration and necrosis from Capnocytophaga-related sepsis received suboptimal oral care, resulting in their tongue being fused to their lip. This was later divided by the oral and maxillofacial team resulting in restoration of full function. Future cases can be avoided in patients with similar symptoms, such as Stevens-Johnson syndrome or erythema multiforme, if rigorous oral care can be provided.
Case Report: Treatment of Hypertrophic Cardiomyopathy With Stereotactic Body Radiotherapy
Authors: Longzihui Xiao, Jiayi Liu, Yingzhe Zhang, Yuefei Liu, Yan Tang, Minping Zhang, Zhuyuan Ding, Enhua Xiao, Taili Chen
Journal: Front Med (Lausanne) (2022)
Keywords: four-dimensional computed tomography (4d-ct), hypertrophic cardiomyopathy, quality of life, radiosurgery, radiotherapy, stereotactic body radiotherapy (sbrt)
MeSH terms: Case Reports

Patients with hypertrophic cardiomyopathy (HCM), which is characterized by left ventricular hypertrophy, is usually treated with medications such as calcium channel blockers or beta-blockers and invasive treatments such as transcatheter alcohol septal ablation, percutaneous radiofrequency ablation, or heart transplantation. However, non-invasive methods have not been employed for the management of patients with HCM. A 71-year-old male who presented with occasional chest pain for approximately 2 months and had been diagnosed with HCM since he was 39 years old due to occasional fainting was treated with a novel method for HCM using stereotactic body radiotherapy (SBRT). The administration of 25 Gy of radiation as one fraction led to an improvement in his quality of life. No toxicity occurred during or immediately after the treatment. Our observations suggest that SBRT may be a reasonable treatment approach for patients with HCM who are not suitable for surgery.
A unique case of asystole secondary to facial injury
Authors: Siddharth A Wartak, Reshma A Mehendale, Amir Lotfi
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Bradycardia has been reported during intraoperative settings of craniofacial, cerebropontine angle and trigeminal ganglion surgeries (Schaller et al. (2009, 1999); Parbhakar et al. (2009); Koerbel et al. (2005); Roberts et al. (1999)). It is also commonly seen in children undergoing orbital and maxillary fractures repair. This mechanism has been described as the trigeminocardiac reflex (TCR) (Schaller et al. (2009, 2004); Kim et al. (2000); Lang et al. (1991); Van Brocklin et al. (1982)). We report an unusual case of posttraumatic bradycardia and recurrent asystole in a previously healthy adult patient from possible TCR in the absence of any surgical intervention to the head and orbital area.
Tacrolimus Induced Leukoencephalopathy and Stroke-Like Symptoms: Case Report
Authors: Kelly M Dopke, Nader El Seblani, Katherine Mercer, Sunil Naik, Gayatra Mainali, Dustin Paul
Journal: Child Neurol Open (2023)
Keywords: magnetic resonance imaging, pediatric neurology, tacrolimus, tacrolimus-induced leukoencephalopathy, toxic leukoencephalopathy
MeSH terms: Case Reports

A 17-year-old female with sickle cell disease status post a recent stem cell transplant and on tacrolimus developed an acute expressive aphasia, dysphagia, and drooling. Brain MRI revealed diffuse restricted diffusion involving the bilateral corona radiata and areas of white matter in the right cerebral hemisphere most consistent with toxic leukoencephalopathy. Tacrolimus serum concentration was high at 19.3 ng/ml (ref 9-12 ng/ml) for which tacrolimus was discontinued. She was neurologically back at baseline 2 days later with the tacrolimus level improving to 8.2 ng/mL. Following discontinuation and the declining trend of her tacrolimus levels the patient returned to her neurologic baseline and was subsequently switched to mycophenolate mofetil for GVHD immunosuppression.
Transanal total mesorectal excision port-assisted perineal hernia repair: A case report
Authors: Xudong Peng, Yinggang Ge, Jianwen Zhang, Zhengqiang Wei, Hongyu Zhang
Journal: Front Oncol (2022)
Keywords: tatme, apr, laparoscopy, perineal hernia, repair
MeSH terms: Case Reports

Perineal hernia after abdominoperineal resection (APR) is a troublesome problem, and severe cases require surgical treatment. However, perineal hernia repair is challenging, especially when combined with intestinal adhesions. The difficulty of the operation lies in performing adhesiolysis and mesh placement under poor visibility. While there are traditional, laparoscopic and even robotic methods of performing this procedure, no easy and minimally-invasive approach has been reported. Here, we report the case of a patient with perineal hernia, who underwent transanal total mesorectal excision (TaTME) port-assisted laparoscopic perineal hernia repair. The operation was successful, the postoperative recovery was uneventful, the patient's symptoms improved significantly, and no recurrence was found during the 4-month follow-up. The availability and safety of TaTME port-assisted perineal hernia repair provide a promising approach for hernia repair. Compared with traditional perineal or laparoscopic abdominal approaches, this procedure is less invasive and results in a better field of vision.
Virtual Reality and the Mediation of Acute and Chronic Pain in Adult and Pediatric Populations: Research Developments
Authors: Yacine Hadjiat, Serge Marchand
Journal: Front Pain Res (Lausanne) (2022)
Keywords: acute pain, analgesia, chronic pain, complementary pain management, digital therapeutics, distraction, pain, virtual reality
MeSH terms: Review

The use of virtual reality (VR) in the mediation of acute pain in adults has shown real benefit to patients for the past 20 years. This review of the literature provides a descriptive synthesis of the types of VR technology, the mechanisms by which VR mediates pain, and a history of early research in the area. A review of the use of VR to mediate chronic pain in adults, and both acute and chronic pain in pediatric populations follows. The studies reviewed provide mixed results and it is noted that many studies have small sample sizes, are case studies, and do not control for extraneous variables such as the dosage and type of VR technology used. Although VR is an exciting area of inquiry that promises to yield multiple applications, there is a necessity to conduct larger random controlled trials to better understand the use cases for which VR is most effective.
Mediastinal malignant triton tumor: A rare case series and review of literature
Authors: Ikram Chaudhry, Thabet Algazal, Ahsan Cheema, Aman Al Faraj, Noor Al Malki, Hadi Mutairi, Ahmed Abbas, Samir Amr
Journal: Int J Surg Case Rep (2019)
Keywords: chemotherapy, malignant triton tumor, mediastinum, radiotherapy, surgery

Introduction:
In 1938, the Malignant Triton Tumor (MTT) was first explained by Mason.
Case presentation:
Case 1: A man aged 28 years presented with chest pain and difficulty in breathing since last five months, there was no history of cough fever or night sweats. Clinical examination was unremarkable. His routine hematological tests including tumor markers were within normal range, testicular ultrasound was normal. CT scan of thorax revealed a mass in the anterior mediastinum. CT guided biopsy revealed a malignant triton tumor. Case 2: A 30 years old man, nonsmoker presented with history of chest tightness and feeling pressure while kneeling down since last 3 months, otherwise fit and healthy. His routine hematological investigations including tumor markers were within normal range. A CT scan of thorax revealed a large mass in the right posterior mediastinum. CT guided biopsy showed malignant triton tumor. Case 3: A man aged 28 years presented with chest pain and difficulty in breathing since last five months, there was no history of cough fever or night sweats. Clinical examination was unremarkable. His routine hematological tests including tumor markers were within normal range, testicular ultrasound was normal. CT scan of thorax revealed a mass in the anterior mediastinum. CT guided biopsy revealed a malignant triton tumor.
Discussion:
Malignant peripheral nerve sheath tumors (MPNST) are uncommon sarcomatous tumors that are believed to be derived from Schwann cell or neighboring cells with perineurial differentiation. MTT is rarely reported in mediastinum, lung and heart (<10%) To the best of our knowledge, only few cases of MTT in the mediastinum have been reported in English literature, including, four were reported in the anterior mediastinum, three in the posterior mediastinum, one in the middle mediastinum and one between the ascending aorta and the main pulmonary artery. Most of the patients were young adults. We report three cases of rare mediastinal malignant triton tumors. They have been treated with palliative surgery/radical surgery +/- adjuvant therapy. The prognosis varied from a 3 month overall survival time to being alive at a 53 month follow-up period.
Conclusion:
In conclusion we report three rare cases of mediastinal malignant triton tumor treated with radical surgical resection and post-operative radiotherapy, one patient developed lung metastasis, and two had late local recurrence. The malignant triton tumor is a lethal neoplasm which carries very poor prognosis particularly when they occur in the mediastinum because it's very difficult to obtain wider tumor free margin due to the nature of location site.
Bortezomib induced hepatitis B reactivation
Authors: Salwa Hussain, Ruby Jhaj, Samira Ahsan, Muhammad Ahsan, Robert E Bloom, Syed-Mohammed R Jafri
Journal: Case Rep Med (2014)

Background. It has recently been reported that hepatitis B (HBV) reactivation often occurs after the use of rituximab and stem cell transplantation in patients with lymphoma who are hepatitis B surface antigen (HBsAg) negative. However, clinical data on HBV reactivation in multiple myeloma (MM) is limited to only a few reported cases. Bortezomib and lenalidomide have remarkable activity in MM with manageable toxicity profiles, but reactivation of viral infections may emerge as a problem. We present a case of MM that developed HBV reactivation after bortezomib and lenalidomide therapy. Case Report. A 73-year-old female with a history of marginal cell lymphoma was monitored without requiring therapy. In 2009, she developed MM, presenting as a plasmacytoma requiring vertebral decompression and focal radiation. While receiving radiation she developed renal failure and was started on bortezomib and liposomal doxorubicin. After a transient response to 5 cycles, treatment was switched to lenalidomide. Preceding therapy initiation, her serology indicated resolved infection. Serial monitoring for HBV displayed seroconversion one month after change in therapy. Conclusion. Bortezomib associated late HBV reactivation appears to be a unique event that requires further confirmation and brings to discussion whether hepatitis B core positive individuals would benefit from monitoring of HBV activation while on therapy.
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report
Authors: Guorui Hu, Jingxia Zeng, Chunli Wang, Wei Zhou, Zhanjun Jia, Jun Yang, Bixia Zheng
Journal: Front Pediatr (2020)
Keywords: etfdh, exon skipping, multiple acyl-coa dehydrogenase deficiency, synonymous variant, whole exome sequencing
MeSH terms: Case Reports

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder characterized by a wide range of clinical features, including muscle weakness, hypoglycemia, metabolic acidosis, and multisystem dysfunctions. Loss-of-function mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene are associated with MADD. Disease-causing synonymous variants in the ETFDH gene have not been reported so far. Methods: We reported the clinical course of a Chinese girl who was diagnosed with late-onset MADD by the whole exome sequencing. The effects of variants on mRNA splicing were analyzed through transcript analysis in vivo and minigene splice assay in vitro. Results: The 6-month-old girl initially showed muscle weakness, muscular hypotonia, mild myogenic damage, and fatty liver. The blood and urine metabolic screening by tandem mass spectrometry suggested MADD. Molecular analysis of ETFDH gene revealed two novel heterozygous variants, a frameshift mutation c.1812delG (p.V605Yfs*34) in exon 13 and a synonymous variant c.579A>G (p.E193E) in exon 5. The transcript analysis in vivo exhibited that the synonymous variant c.579A>G caused exon 5 skipping. The minigene splice assay in vitro confirmed the alteration of ETFDH mRNA splicing which could lead to the production of a truncated protein. Supplementation of riboflavin, carnitine and low-fat diet improved the clinical symptoms. Conclusion: We firstly report a rare case of MADD with a pathogenic synonymous variant in the ETFDH gene which highlights the importance and necessity of bioinformatic analysis and functional testing for synonymous variants when searching for causative gene mutations. The results expand the spectrum of pathogenic variants in MADD.