Suspected malignant hyperthermia in a young Chinese patient undergoing a micro varicocelectomy surgery.
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ABSTRACT:
SUBMITTER: Xu H
PROVIDER: S-EPMC10476765 | biostudies-literature | 2023 Sep
REPOSITORIES: biostudies-literature
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Suspected malignant hyperthermia in a young Chinese patient undergoing a micro varicocelectomy surgery.
Xu Hongjiao H Wang Zhaomin Z Peng Zhongmei Z Zhang Jianhai J Li Xiang X Liu Di D Qi Jie J Li Jinbao J
Chinese medical journal 20230905 17
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Project description:IntroductionMalignant Hyperthermia (MH) is an inherited hypermetabolic syndrome triggered by exposure to halogenated anesthetics/succinylcholine. The lack of knowledge regarding this condition might be associated with the rare occurrence of MH reaction and symptoms.MethodsThis observational study evaluated 68 patients from 48 families with confirmed or suspected MH susceptibility due to medical history of MH reaction or idiopathic increase of creatine kinase or MH-related myopathies. Participants were assessed by a standardized questionnaire and submitted to physical/neurological examination to assess the characteristics of patients with MH, their knowledge about the disease, and the impact suspected MH had on their daily lives.ResultsSuspected MH impacted the daily life of 50% of patients, creating difficulties in performing surgical/clinical/dental treatment and problems related to their family life/working/practicing sports. The questionnaire on MH revealed a correct answer score of 62.1 ± 20.8 (mean ± standard deviation) on a scale 0 to 100. Abnormal physical/neurological examination findings were detected in 92.6% of susceptible patients.ConclusionsSuspected MH had impacted the daily lives of most patients, with patients reporting problems even before MH investigation with IVCT. Patients showed a moderate level of knowledge about MH, suggesting the need to implement continuing education programs. MH susceptible patients require regular follow-up by a health team to detect abnormalities during physical and neurological examination.
| S-EPMC10068541 | biostudies-literature
Project description:BackgroundMalignant hyperthermia (MH) continues to be of potential concern for clinicians whenever inhalational anesthetic agents or succinylcholine are used, because MH is a potentially fatal metabolic disorder.MethodsA systematic and comprehensive search will be performed using MEDLINE, EMBASE, and Google Scholar, for studies published up to November 2017. Peer-reviewed prospective cohort studies, retrospective cohort studies, and cross-sectional studies or reports issued by government organizations reporting the incidence or prevalence of MH will be eligible for inclusion. The quality of included studies will be assessed using the Newcastle-Ottawa scale and the modified risk of bias tool. Heterogeneity of estimates across studies as well as publication bias will be assessed. This systematic review and meta-analysis will be performed according to the Meta-analysis of Observational Studies in Epidemiology (MOOSE) guidelines and reported according to the Preferred Reporting Items for Systematic reviews and Meta-Analysis (PRISMA) guidelines. All statistical analyses will be conducted using the Stata SE version 15.0.ResultsThe results of this systematic review and meta-analysis will be published in a peer-reviewed journal.ConclusionTo our knowledge, this systematic review and meta-analysis will be the first to evaluate existing research on the incidence of MH. Our study will provide an overall estimate of the incidence of MH. Subgroup analysis will assess the incidence of MH according to age, gender, geographical region, race, and the provoking agent if possible. The review will benefit patients, healthcare providers, and policymakers.Ethics and disseminationEthical approval and informed consent are not required, as the study will be a literature review and will not involve direct contact with patients or alterations to patient care.Trial registration numberThe protocol for this review has been registered in the PROSPERO network (registration number: CRD42017076628).
| S-EPMC5728960 | biostudies-literature
Project description:Aborted sudden cardiac death in the young often is due to inherited heart disease. However, the clinical phenotype in these patients is not always evident. The aim of this study was to identify pathogenic molecular genetic variants in a population with suspected inherited cardiac arrhythmias. Eligible patients were admitted to Aarhus University Hospital, Denmark during the period 1999-2013 with arrhythmias assumed caused by a hereditary heart disease, and in whom no genotype had been established. We used the Danish national pacemaker and ICD registry to identify this cohort. One third (24/80) of the study population had first-line genetic testing with a targeted next-generation sequencing (NGS) panel, and two-third (56/80) of the study population had second-line genetic testing with NGS where prior Sanger sequencing did not reveal a causative variant. Variants were assessed according to the American College of Medical Genetics and Genomics (ACMG) guidelines. We included 80 patients. Median age (IQR) was 38 (28-43) years, 54 (68%) were males. First-line genetic testing identified a genetic variant in 33% (8/24) of the cases and second-line genetic testing revealed a variant in 20% (11/56) of the cases. Eleven variants were considered pathogenic, three likely pathogenic and 10 were variants of unknown significance (VUS). Seventeen variants were very rare with a minor allele frequency (MAF) ≤0.02% in all population databases used in the study. Molecular genetic testing of patients with suspected inherited cardiac arrhythmias with NGS identifies a molecular-genetic cause in a significant proportion of patients.
| S-EPMC5838968 | biostudies-literature
Project description:Conventional meta-analyses have shown inconsistent results for the efficacy of various treatments of varicoceles. Therefore, we performed a multiple-treatment meta-analysis to assess the effectiveness and safety of 10 methods of varicocelectomy and embolization/sclerotherapy. We systematically reviewed 35 randomized controlled trials and observational studies, from 1966 to August 5, 2013, which compared any of the following treatments for varococeles: laparoscopic, retroperitoneal, open inguinal and subinguinal varicocelectomy, microsurgical subinguinal and inguinal varicocelectomy, percutaneous venous embolization, Tauber antegrade sclerotherapy, retrograde sclerotherapy and expectant therapy (no treatment). Inguinal and subinguinal microsurgery, open inguinal, laparoscopic varicocelectomy showed a significant advantage over expectant therapy in terms of pregnancy rates (odds ratio (OR): 3.48, 2.68, 2.92 and 2.90, respectively). Compared with retroperitoneal open surgery, inguinal microsurgery showed an improvement of sperm density (mean difference (MD): 10.60, 95% confidence interval (CI): 1.92-19.60) and sperm motility (MD: 9.09, 95% CI: 4.88-13.30). Subinguinal and inguinal microsurgery outperformed retroperitoneal open surgery in terms of recurrence (OR: 0.05, 0.06 respectively). Tauber antegrade sclerotherapy and subinguinal microsurgery were associated with the lowest risk of hydrocele formation. The odds of overall complication, compared with retroperitoneal open varicocelectomy, were lowest for inguinal microsurgery (OR = 0.07, 95% CI: 0.02-0.19), followed by subinguinal microsurgery (OR = 0.09, 95% CI: 0.02-0.19). Inguinal and subinguinal micro-varicocelectomy had the highest pregnancy rates, significant increases in sperm parameters, with low odds of complication. These results warrant additional properly conducted randomized controlled clinical studies with larger sample sizes.
| S-EPMC4291882 | biostudies-literature
Project description:PurposeClinical factors and neuro-imaging in patients with glioblastoma who appear to progress following standard chemoradiation are unable to reliably distinguish tumor progression from pseudo-progression. As a result, surgery is commonly recommended to establish a final diagnosis. However, studies evaluating the pathologists' agreement on pathologic diagnoses in this setting have not been previously evaluated.MethodsA hypothetical clinical history coupled with images of histological sections from 13 patients with glioblastoma who underwent diagnostic surgery for suspected early recurrence were sent to 101 pathologists from 50 NCI-designated Cancer Centers. Pathologists were asked to provide a final diagnosis (active tumor, treatment effect, or unable to classify) and to report on percent active tumor, treatment effect, and degree of cellularity and degree of mitotic activity.ResultsForty-eight pathologists (48%) from 30 centers responded. In three cases > 75% of pathologists diagnosed active tumor. In two cases > 75% diagnosed treatment effect. However, in the remaining eight cases the disparity in diagnoses was striking (maximum agreement on final diagnosis ranged from 36 to 68%). Overall, only marginal agreement was observed in the overall assessment of disease status [kappa score 0.228 (95% CI 0.22-0.24)].ConclusionsConfidence in any clinical diagnostic assay requires that very similar results are obtained from identical specimens evaluated by sophisticated clinicians and institutions. The findings of this study illustrate that the diagnostic agreement between different cases of repeat resection for suspected recurrent glioblastoma can be variable. This raises concerns as pathological diagnoses are critical in directing standard and experimental care in this setting.
| S-EPMC6342857 | biostudies-literature
Project description:Exertional rhabdomyolysis (ER) and stress-induced malignant hyperthermia (MH) events are syndromes that primarily afflict military recruits in basic training and athletes. Events similar to those occurring in ER and in stress-induced MH events are triggered after exposure to anesthetic agents in MH-susceptible (MHS) patients. MH is an autosomal dominant hypermetabolic condition that occurs in genetically predisposed subjects during general anesthesia, induced by commonly used volatile anesthetics and/or the neuromuscular blocking agent succinylcholine. Triggering agents cause an altered intracellular calcium regulation. Mutations in RYR1 gene have been found in about 70% of MH families. The RYR1 gene encodes the skeletal muscle calcium release channel of the sarcoplasmic reticulum, commonly known as ryanodine receptor type 1 (RYR1). The present work reviews the documented cases of ER or of stress-induced MH events in which RYR1 sequence variations, associated or possibly associated to MHS status, have been identified.
| S-EPMC3582168 | biostudies-literature
Project description: Not available
| S-EPMC1782026 | biostudies-literature
Project description:IntroductionOrthotopic liver transplants are characterized by sudden changes in hemodynamics, intraoperative hemorrhage, metabolic and electrolyte derangements, and arrhythmias. Many of these features are also hallmarks of malignant hyperthermia episodes and make differentiation difficult intraoperatively. Additionally, the treatment for malignant hyperthermia, dantrolene, can cause hepatotoxicity in already damaged native livers and newly reperfused organ allografts. Thus, it is imperative to avoid a triggering anesthetic in these patients. Here we report on a successful total intravenous anesthetic in a malignant hyperthermia susceptible individual undergoing an orthotopic liver transplant for acutely decompensated end-stage liver disease. Case Presentation. A 49-year-old male with a past medical history significant for malignant hyperthermia episodes as a child was admitted with decompensated alcoholic cirrhosis. He underwent uneventful total intravenous general anesthesia with propofol and sufentanil continuous infusions for an orthotopic liver transplant. He required minimal vasoactive agents to maintain a mean arterial blood pressure >65 mmHg and was extubated on postoperative day 1.ConclusionsTotal intravenous anesthesia is necessary for patients with a personal history of malignant hyperthermia. However, this type of general anesthesia is difficult in the setting of fluctuating hemodynamics, hemorrhage, and changes in drug metabolism and clearance during the anhepatic and reperfusion phases of an orthotopic liver transplant. Propofol and sufentanil continuous infusions provided stable hemodynamics and an excellent plane of anesthesia throughout the case and should be considered in other individuals undergoing this procedure who require a total intravenous anesthetic.
| S-EPMC9509212 | biostudies-literature
Project description:BackgroundVaricocele (VC) is one of the most common causes of infertility in men, and microscopic varicocelectomy is currently the major surgical procedure for VC. We assessed the clinical effectiveness of microsurgical subinguinal varicocelectomy (MSV) with enhanced recovery after surgery (ERAS) in the treatment of VC in terms of semen quality improvement rate, pregnancy rate, pain relief rate, recurrence rate, and complication rate after MSV and explored the indications for VC surgery.MethodsIn total, 216 patients undergoing MSV in our center between June 2019 and July 2020 were enrolled in this study. All patients received the surgery under local anesthesia and were admitted and discharged within 24 hours. All patients were followed up for more than 6 months, and the rates of semen quality improvement, pregnancy, pain relief, recurrence, and postoperative complications were recorded. We can evaluate the pain degree of patients through the numerical rating scale (NRS). (I) 0 points for painless; (II) 1-3: mild pain; (III) 4-6: moderate pain; (IV) 7-10 points are severe pain. 0 is the most slightly, indicating comfort, and 10 is the most painful and unbearable.ResultsThe sperm concentration, total sperm count, progressive motility rate, sperm viability, and morphology were significantly improved after the surgery (all P values <0.05). The rate of semen quality improvement was 88.2%, and the semen indicators returned to normal in 26.6% of the patients. Among the patients who were followed up for 1 year, the natural conception rate reached 27.1% and was accompanied by a 95.5% pain relief rate, a 0.5% VC recurrence rate, and a 2.3% postoperative complication rate.We obtained data through laboratory examination of semen DNA fragments index (DFI). Compared with preoperative and postoperative DFI, postoperative DFI was improved, and the pregnancy outcome was improved.ConclusionsMSV under local anesthesia increases the rates of semen quality improvement, pregnancy, and pain relief while lowering the rates of recurrence and postoperative complications. MSV may also help to improve the pregnancy outcomes in patients with VC accompanied by sperm DNA fragmentation or nonobstructive azoospermia, but this should be verified by further investigation.
| S-EPMC8575574 | biostudies-literature
Project description:BackgroundMalignant hyperthermia is a rare but life-threatening pharmacogenetic muscle disorder characterized by abnormal hypermetabolic reactions and commonly triggered in susceptible individuals by volatile anesthetics or succinylcholine, or both. Unfortunately, the specific medicine dantrolene is not readily available in many countries including China. The aim of this study was to find the characteristics of malignant hyperthermia under the situation that dantrolene is not readily available.MethodsThe cases of malignant hyperthermia reported on the most commonly used databases in China from 1985 to 2020 were analyzed. The inclusion criteria were the MH episodes only related to anesthesia. The exclusion criteria were dubious MH episodes only caused by Ketamine administration or MH episodes irrelevant to anesthesia. Independent samples t-test and Pearson's chi-squared test were applied to assess the difference between the survived and death cases.ResultsNinety-two cases of malignant hyperthermia reported on the most commonly used databases in China from 1985 to 2020 were analyzed. Median (IQR [range]) age was 18.5 (11.8-37.0 [0-70.0]) years. Compared with the survived cases, the death cases had higher maximum end-tidal partial pressure of CO2 (P = 0.033), the maximum arterial partial pressure of CO2 (P = 0.006), temperature first measured when the patient was first discovered abnormal (P = 0.012), and maximum temperature (P < 0.001). Besides, the death cases had less minimum pH (P < 0.001) and higher potassium (P < 0.001) and were more likely to have coagulation disorders (p = 0.018). Concerning treatment, cases used furosemide (P = 0.024), mannitol (P = 0.029), blood purification treatment (P = 0.017) had the advantage on the outcome. Creatine phosphokinase, myoglobin, and MB isoenzyme of creatine phosphokinase differed greatly among cases during the first week. 43 (46.7%) cases had congenital diseases. 12 (13.0%) cases were reported with abnormal laboratory test results or abnormal signs that are possibly relevant before anesthesia.ConclusionsIn countries that dantrolene is not readily available, early warning, diagnosis, and prompt effective therapies are crucial for MH patients to survive.
| S-EPMC8051048 | biostudies-literature