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Neuromuscular Disorders : NMD Dec 2020Neuroleptic malignant syndrome and serotonin syndrome are two syndromes whose molecular bases remain poorly understood. The phenotypes of both syndromes overlap with...
Neuroleptic malignant syndrome and serotonin syndrome are two syndromes whose molecular bases remain poorly understood. The phenotypes of both syndromes overlap with other syndromes that have a clear genetic background, in particular RYR1-related malignant hyperthermia. Through a literature review, performed according to the PRISMA guidelines, we aimed to report the clinical features of both syndromes, and the results of genetic testing performed. 10 case series and 99 case reports were included, comprising 134 patients. A male predominance of 58% was found. The median age was 35 (range 4-84) years. Eight patients experienced recurrent episodes of rhabdomyolysis. Genetic analysis was performed in eleven patients (8%), revealing four RYR1 variants, three likely benign (p.Asp849Asn, p.Arg4645Gln, p.Arg4645Gln) and one variant of uncertain significance (p.Ala612Thr). This review underlines that a subset of patients with neuroleptic malignant syndrome and serotonin syndrome develop recurrent episodes of rhabdomyolysis. This recurrent pattern suggests a possible underlying (genetic) susceptibility. However, the genetic background of neuroleptic malignant syndrome and serotonin syndrome has only been investigated to a very limited degree so far. The increasing availability of next generation sequencing offers an opportunity to identify potentially associated genetic backgrounds, especially in patients with recurrent episodes or a positive family history.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Genetic Predisposition to Disease; Genetic Testing; Humans; Male; Malignant Hyperthermia; Middle Aged; Mutation; Neuroleptic Malignant Syndrome; Phenotype; Rhabdomyolysis; Ryanodine Receptor Calcium Release Channel; Serotonin Syndrome; Young Adult
PubMed: 33250373
DOI: 10.1016/j.nmd.2020.10.010 -
Frontiers in Cell and Developmental... 2022Cancer is still one of the world's deadliest health concerns. As per latest statistics, lung, breast, liver, prostate, and cervical cancers are reported topmost... (Review)
Review
Cancer is still one of the world's deadliest health concerns. As per latest statistics, lung, breast, liver, prostate, and cervical cancers are reported topmost worldwide. Although chemotherapy is most widely used methodology to treat cancer, poor pharmacokinetic parameters of anticancer drugs render them less effective. Novel nano-drug delivery systems have the caliber to improve the solubility and biocompatibility of various such chemical compounds. In this regard, cyclodextrins (CD), a group of natural nano-oligosaccharide possessing unique physicochemical characteristics has been highly exploited for drug delivery and other pharmaceutical purposes. Their cup-like structure and amphiphilic nature allows better accumulation of drugs, improved solubility, and stability, whereas CDs supramolecular chemical compatibility renders it to be highly receptive to various kinds of functionalization. Therefore combining physical, chemical, and bio-engineering approaches at nanoscale to specifically target the tumor cells can help in maximizing the tumor damage without harming non-malignant cells. Numerous combinations of CD nanocomposites were developed over the years, which employed photodynamic, photothermal therapy, chemotherapy, and hyperthermia methods, particularly targeting cancer cells. In this review, we discuss the vivid roles of cyclodextrin nanocomposites developed for the treatment and theranostics of most important cancers to highlight its clinical significance and potential as a medical tool.
PubMed: 36158215
DOI: 10.3389/fcell.2022.984311 -
Environmental Research Nov 2023Photothermal therapy (PTT) is an emerging non-invasive method used in cancer treatment. In PTT, near-infrared laser light is absorbed by a chromophore and converted into... (Review)
Review
Photothermal therapy (PTT) is an emerging non-invasive method used in cancer treatment. In PTT, near-infrared laser light is absorbed by a chromophore and converted into heat within the tumor tissue. PTT for cancer usually combines a variety of interactive plasmonic nanomaterials with laser irradiation. PTT enjoys PT agents with high conversion efficiency to convert light into heat to destroy malignant tissue. In this review, published studies concerned with the use of nanoparticles (NPs) in PTT were collected by a systematic and comprehensive search of PubMed, Cochrane, Embase, and Scopus databases. Gold, silver and iron NPs were the most frequent choice in PTT. The use of surface modified NPs allowed selective delivery and led to a precise controlled increase in the local temperature. The presence of NPs during PTT can increase the reactive generation of oxygen species, damage the DNA and mitochondria, leading to cancer cell death mainly via apoptosis. Many studies recently used core-shell metal NPs, and the effects of the polymer coating or ligands targeted to specific cellular receptors in order to increase PTT efficiency were often reported. The effective parameters (NP type, size, concentration, coated polymers or attached ligands, exposure conditions, cell line or type, and cell death mechanisms) were investigated individually. With the advances in chemical synthesis technology, NPs with different shapes, sizes, and coatings can be prepared with desirable properties, to achieve multimodal cancer treatment with precision and specificity.
PubMed: 37487920
DOI: 10.1016/j.envres.2023.116526 -
Journal of Clinical Neuromuscular... Dec 2019Whether asymptomatic hyper-CKemia (AHCE) should prompt a thorough work-up for muscle disease or not is controversially discussed. This review aims at summarizing and...
OBJECTIVES
Whether asymptomatic hyper-CKemia (AHCE) should prompt a thorough work-up for muscle disease or not is controversially discussed. This review aims at summarizing and discussing recent findings concerning the cause, frequency, evolution, and work-up of conditions manifesting as AHCE and normal or abnormal electromyography (EMG) respectively muscle biopsy.
METHODS
Systematic PubMed search.
RESULTS
There are numerous primary (hereditary) and acquired myopathies that manifest with permanent, recurrent, or temporary AHCE with/without myopathic EMG or muscle biopsy. AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dysferlinopathy, central core disease, multicore disease, desminopathy, MD1, MD2, hypoPP, malignant hyperthermia susceptibility, Pompe disease, McArdle disease, myoadenylate deaminase-deficiency, CPT2-deficiency, mitochondrial disorders, or myopathy with tubular aggregates. Most likely, other primary myopathies manifest with AHCE as well, without having been reported. Patients with AHCE should be taken seriously and repeated CK determination must be conducted. If hyper-CKemia is persisting or recurrent, these patients should undergo an EMG and eventually muscle biopsy. If noninformative, genetic work-up by a panel or whole exome sequencing should be initiated, irrespective of the family history. Patients with AHCE should avoid excessive exercise, require sufficient hydration, require counseling with regard to the risk of malignant hyperthermia, and should inform anesthesiologists and surgeons about their condition before elective surgery.
CONCLUSIONS
Recurrent AHCE should be taken seriously and managed with conventional work-up. If noninformative, genetic work-up should follow irrespective of the family history.
Topics: Creatine Kinase; Humans; Mass Screening; Mitochondrial Diseases; Muscular Diseases
PubMed: 31743252
DOI: 10.1097/CND.0000000000000269 -
Expert Opinion on Medical Diagnostics Mar 2010Malignant hyperthermia (MH) is a potentially lethal hypermetabolic syndrome that develops in susceptible individuals exposed to volatile anesthetics or depolarizing...
IMPORTANCE OF THE FIELD
Malignant hyperthermia (MH) is a potentially lethal hypermetabolic syndrome that develops in susceptible individuals exposed to volatile anesthetics or depolarizing neuromuscular blocking agents. Because genetic screening is successful only in 30 - 50% of all suspected cases, contracture testing following an open muscle biopsy is performed to diagnose MH susceptibility. Two different protocols exist, the in vitro contracture test (IVCT) for Europe and the caffine halothane contracture test for the US. As replacement for the IVCT, an in vivo metabolic test might allow an equal discrimination of MH susceptible individuals. In this systematic review, all available metabolic testing methods are analyzed.
WHAT THE READER WILL GAIN
The reader will gain insight in methods and results of alternative approaches to diagnose MH.
AREAS COVERED IN THIS REVIEW
Relevant studies involving in vivo metabolic testing were systematically searched (Medline) and reviewed. Their ability to discriminate MH susceptible individuals was analyzed and compared. Any systemic or local side effects were documented and evaluated in order to allow more robust conclusions based on larger sample sizes than the single trials.
TAKE HOME MESSAGE
All discussed study protocols allowed an adequate discrimination of MH susceptible individuals. The latest study protocol reaches a specificity of 79% with a sensitivity of 100%. No severe systemic or local adverse effects could be seen in the pooled analysis. Minimally invasive metabolic testing is a promising novel approach to diagnose MH. Further multi-center studies have to be conducted to optimize the results in order to replace the IVCT.
PubMed: 23484448
DOI: 10.1517/17530051003599344 -
International Journal of Hyperthermia :... Dec 2017We performed a systematic review and meta-analysis to evaluate the safety of radiofrequency ablation (RFA) for the treatment of benign thyroid nodules and recurrent... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
We performed a systematic review and meta-analysis to evaluate the safety of radiofrequency ablation (RFA) for the treatment of benign thyroid nodules and recurrent thyroid cancers.
MATERIALS AND METHODS
Ovid-MEDLINE, EMBASE, and Library of Cochrane databases were searched up to 12 July 2016 for studies on the safety of RFA for treating benign thyroid nodules or recurrent thyroid cancers. Pooled proportions of overall and major complications were assessed using random-effects modelling. Heterogeneity among studies was determined using the χ statistic for the pooled estimates and the inconsistency index I.
RESULTS
A total of 24 eligible studies were included, giving a sample size of 2421 patients and 2786 thyroid nodules. 41 major complications and 48 minor complications of RFA were reported, giving a pooled proportion of 2.38% for overall RFA complications [95% confidence interval (CI): 1.42%-3.34%] and 1.35% for major RFA complications (95% CI: 0.89%-1.81%). There were no heterogeneities in either overall or major complications (I = 1.24%-21.79%). On subgroup analysis, the overall and major complication rates were significantly higher for malignant thyroid nodules than for benign thyroid nodules (p = 0.0011 and 0.0038, respectively).
CONCLUSIONS
RFA was found to be safe for the treatment of benign thyroid nodules and recurrent thyroid cancers.
Topics: Catheter Ablation; Humans; Neoplasm Recurrence, Local; Thyroid Neoplasms; Thyroid Nodule
PubMed: 28565997
DOI: 10.1080/02656736.2017.1337936 -
Radiation Oncology (London, England) Sep 2022Soft tissue sarcomas (STS) represent a diverse group of rare malignant tumors. Currently, five to six weeks of preoperative radiotherapy (RT) combined with surgery... (Review)
Review
BACKGROUND
Soft tissue sarcomas (STS) represent a diverse group of rare malignant tumors. Currently, five to six weeks of preoperative radiotherapy (RT) combined with surgery constitute the mainstay of therapy for localized high-grade sarcomas (G2-G3). Growing evidence suggests that shortening preoperative RT courses by hypofractionation neither increases toxicity rates nor impairs oncological outcomes. Instead, shortening RT courses may improve therapy adherence, raise cost-effectiveness, and provide more treatment opportunities for a wider range of patients. Presumed higher rates of adverse effects and worse outcomes are concerns about hypofractionated RT (HFRT) for STS. This systematic review summarizes the current evidence on preoperative HFRT for the treatment of STS and discusses toxicity and oncological outcomes compared to normofractionated RT.
METHODS
We conducted a systematic review of clinical trials describing outcomes for preoperative HFRT in the management of STS using PubMed, the Cochrane library, the Cochrane Central Register of Controlled Trials, ClinicalTrials.gov, Embase, and Ovid Medline. We followed the 2020 Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Trials on retroperitoneal sarcomas, postoperative RT, and hyperthermia were excluded. Articles published until November 30th, 2021, were included.
RESULTS
Initial search yielded 94 articles. After removal of duplicate and ineligible articles, 13 articles qualified for analysis. Eight phase II trials and five retrospective analyses were reviewed. Most trials applied 5 × 5 Gy preoperatively in patients with high-grade STS. HFRT courses did not show increased rates of adverse events compared to historical trials of normofractionated RT. Toxicity rates were mostly comparable or lower than in trials of normofractionated RT. Moreover, HFRT achieved comparable local control rates with shorter duration of therapy. Currently, more than 15 prospective studies on HFRT + / - chemotherapy are ongoing.
CONCLUSIONS
Retrospective data and phase II trials suggest preoperative HFRT to be a reasonable treatment modality for STS. Oncological outcomes and toxicity profiles were favorable. To date, our knowledge is mostly derived from phase II data. No randomized phase III trial comparing normofractionated and HFRT in STS has been published yet. Multiple ongoing phase II trials applying HFRT to investigate acute and late toxicity will hopefully bring forth valuable findings.
Topics: Humans; Prospective Studies; Radiation Dose Hypofractionation; Retrospective Studies; Sarcoma; Soft Tissue Neoplasms
PubMed: 36104789
DOI: 10.1186/s13014-022-02072-9 -
Annals of Surgical Oncology Sep 2012To evaluate laparoscopic hyperthermic intraperitoneal chemotherapy (HIPEC) with neoadjuvant, adjuvant, or palliative purpose in order to discuss potential clinical... (Review)
Review
PURPOSE
To evaluate laparoscopic hyperthermic intraperitoneal chemotherapy (HIPEC) with neoadjuvant, adjuvant, or palliative purpose in order to discuss potential clinical implications.
METHODS
A systematic search of PubMed's Medline through August 2011 using the keywords laparoscopic, hyperthermic, and chemotherapy.
RESULTS
Eight studies encompassing a total of 183 patients were considered. The indications for laparoscopic HIPEC was neoadjuvant in 5 patients, adjuvant in 102 patients, and palliative in 76 patients. There were 13 minor complications not requiring repeat operation, and no deaths related to procedure were recorded. When performed to treat refractory malignant ascites, the procedure was effective in 95 % of cases.
CONCLUSIONS
Laparoscopic HIPEC appears to be a safe and effective procedure when performed to treat malignant ascites refractory to less aggressive treatments. The effectiveness of laparoscopy to perform HIPEC with neoadjuvant or adjuvant purpose needs to be confirmed by further studies.
Topics: Antineoplastic Agents; Ascites; Carcinoma; Chemotherapy, Adjuvant; Humans; Hyperthermia, Induced; Infusions, Parenteral; Laparoscopy; Neoadjuvant Therapy; Palliative Care; Peritoneal Neoplasms
PubMed: 22526907
DOI: 10.1245/s10434-012-2360-0 -
European Respiratory Review : An... Sep 2019Debulking surgery and hyperthermic intrathoracic chemotherapy (HITHOC) has been successfully used in the treatment of thoracic tumours. Few authors report on the...
INTRODUCTION
Debulking surgery and hyperthermic intrathoracic chemotherapy (HITHOC) has been successfully used in the treatment of thoracic tumours. Few authors report on the feasibility of its use in patients with lung cancer and malignant pleural effusion. The aim of this study was to evaluate the efficacy and results of debulking surgery and HITHOC in the treatment of selected patients with nonsmall cell lung cancer (NSCLC) and malignant pleural effusion.
METHODS
A systematic review was conducted in MEDLINE in accordance with PRISMA guidelines. The word search included: "hyperthermic intrathoracic chemotherapy and/or HITHOC or hyperthermic intrapleural". Inclusion criteria were only those studies reporting a sufficient amount of data on HITHOC and surgery for lung cancer. Single case reports and review articles were excluded.
RESULTS
20 articles were selected as they related to the topic of HITHOC and lung cancer. Most were from China (n=8) and Japan (n=6). Only four out of the 20 articles had sufficient data for this review. In total, data for 21 patients were collected. Debulking surgery ranged from wedge resection to pneumonectomy and pleurectomy. Mean survival was 27 months and median survival was 18 months (range 1-74 months). 13 patients out of 21 (62%) were alive at 1 year and six (28.5%) were alive at 2 years. 10 patients were still alive at the time of the respective publication in the 21 patients included. Systemic toxicity and treatment-related mortality were nil. There were insufficient data to perform a meta-analysis.
CONCLUSION
Although reported survival in this systematic review is encouraging, available evidence concerning debulking surgery and HITHOC in N0-N1 NSCLC with malignant pleural effusion is weak. Better evidence in the form of a randomised controlled trial is mandatory.
Topics: Adult; Aged; Antineoplastic Agents; Carcinoma, Non-Small-Cell Lung; Cytoreduction Surgical Procedures; Female; Humans; Hyperthermia, Induced; Lung Neoplasms; Male; Middle Aged; Neoplasm Staging; Pleural Effusion, Malignant; Pneumonectomy; Risk Factors; Time Factors; Treatment Outcome
PubMed: 31366459
DOI: 10.1183/16000617.0018-2019 -
Nanomedicine : Nanotechnology, Biology,... Nov 2015Gold nanoparticles (GNPs) are readily synthesised structures that absorb light strongly to generate thermal energy which induces photothermal destruction of malignant... (Review)
Review
UNLABELLED
Gold nanoparticles (GNPs) are readily synthesised structures that absorb light strongly to generate thermal energy which induces photothermal destruction of malignant tissue. This review examines the efficacy, potential challenges and toxicity from in vitro and in vivo applications of GNPs in oesophageal, gastric and colon cancers. A systematic literature search of Medline, Embase, Web of Science and Cochrane databases was performed using PRISMA guidelines. Two hundred and eighty-four papers were reviewed with sixteen studies meeting the inclusion criteria. The application of GNPs in eleven in vivo rodent studies with GI adenocarcinoma demonstrated excellent therapeutic outcomes but poor corroboration in terms of the cancer cells used, photothermal irradiation regimes, fluorophores and types of nanoparticles. There is compelling evidence of the translational potential of GNPs to be complimentary to surgery and feasible in the photothermal therapy of GI cancer but reproducibility and standardisation require development prior to GI cancer clinical trials.
FROM THE CLINICAL EDITOR
Gold nanoparticles are one of the most potentially useful nanoparticles. This is especially true in cancer therapeutics because of their photothermal properties. In this comprehensive article, the authors reviewed the application and efficacy of gold nanoparticles in both the diagnosis and treatment of GI cancers. This review should provide a stimulus for researchers to further develop and translate these nanoparticles into future clinical trials.
Topics: Animals; Gastrointestinal Neoplasms; Gastrointestinal Tract; Gold; Humans; Hyperthermia, Induced; Metal Nanoparticles; Phototherapy; Theranostic Nanomedicine
PubMed: 26115635
DOI: 10.1016/j.nano.2015.05.010