-
Journal of Anaesthesiology, Clinical... 2024
PubMed: 38919430
DOI: 10.4103/joacp.joacp_414_22 -
Gene Jun 2024Mutated skeletal muscle ryanodine receptor-1 (RYR1) gene is associated with a spectrum of autosomal dominant and recessive RyR1-related disorders with a wide phenotype....
Mutated skeletal muscle ryanodine receptor-1 (RYR1) gene is associated with a spectrum of autosomal dominant and recessive RyR1-related disorders with a wide phenotype. This report describes a variable phenotype associated with a previously unreported RYR1 frameshift pathogenic variant, (NM_000540.2) c.12815_12825del; p.Ala4272Glyfs*307, common in Libyan Jews. Clinical and genetic features of 14 carriers from 8 unrelated families were collected. There were 12 heterozygotes and 2 compound heterozygotes. Six heterozygotes (median age 49.8) were asymptomatic, and six (median age 24.5) presented with myopathy (n = 3) or severe arthrogryposis-like features, severe scoliosis, pes planus, post-anesthesia malignant hyperthermia, or cystic hygroma (in a fetus) (n = 1 each). None had an abnormal echocardiogram study or elevated creatine phosphokinase (CPK) levels. One bi-allelic carrier had a severe skeletal phenotype and myopathy; the other was a fetus with a cystic hygroma. Assessment of variant frequency in 447 Libyan Jews who underwent exome testing for unrelated reason yielded a prevalence of 1:55. The RYR1 p.Ala4272Glyfs*307 variant is common in Libyan Jews. It is associated with a broad phenotypic spectrum, with possible presentation among heterozygotes. Further genotype-phenotype studies are essential to delineate the clinical significance of the variant in mono- and bi-allelic carriers.
PubMed: 38914246
DOI: 10.1016/j.gene.2024.148725 -
The Journal of International Medical... Jun 2024Malignant hyperthermia (MH), characterized by severe myoclonus, pyrexia, tachycardia, hypertension, elevated muscle enzymes, and hypercapnia, often occurs in patients...
Malignant hyperthermia (MH), characterized by severe myoclonus, pyrexia, tachycardia, hypertension, elevated muscle enzymes, and hypercapnia, often occurs in patients with congenital deformities or genetic disorders. Although the reported incidence rate is as low as 1:5000 to 1:100,000, patients with MH exhibit rapid aggravation and an elevated mortality rate. Thus, MH is associated with substantial perioperative risk. Successful treatment of patients with MH largely depends on early diagnosis and timely effective treatment. This clinical report provides a detailed description of a patient with newly diagnosed MH who developed a rapid rise in body temperature, end-tidal carbon dioxide, and heart rate during maxillary osteotomy. After successful rescue, the patient recovered smoothly during the postoperative period, indicating the importance of intraoperative monitoring, early diagnosis, effective treatment, and postoperative monitoring. This case is expected to serve as a reference for future interventions and healthcare practices in managing other patients with MH.
Topics: Humans; Malignant Hyperthermia; Anesthesia, General; Male; Female; Adult; Osteotomy
PubMed: 38907364
DOI: 10.1177/03000605241261962 -
Advanced Science (Weinheim,... Jun 2024Visual observation and therapeutic intervention against tumors hold significant appeal for tumor treatment, particularly in meeting the demands of intraoperative...
Visual observation and therapeutic intervention against tumors hold significant appeal for tumor treatment, particularly in meeting the demands of intraoperative navigation. From a clinical perspective, the naked-eye visualization of tumors provides a direct and convenient approach to identifying tumors and navigating during surgery. Nevertheless, there is an ongoing need to develop effective solutions in this frontier. Genetically engineered microorganisms are promising as living therapeutics for combatting malignant tumors, leveraging precise tumor targeting and versatile programmed functionalities. Here, genetically modified Escherichia coli (E. coli) MG1655 bacterial cells are introduced, called MelaBac cells, designed to express tyrosinase continuously. This bioengineered melanogenesis produces melanin capable of pigmenting both subcutaneous CT26 xenografts and chemically induced colorectal cancer (CRC). Additionally, MelaBac cells demonstrate the initiation of photonic hyperthermia therapy and immunotherapy against tumors, offering promising selective therapeutic interventions with high biocompatibility.
PubMed: 38889334
DOI: 10.1002/advs.202402709 -
Beilstein Journal of Nanotechnology 2024Hepatocellular carcinoma (HCC) is the sixth most common malignant tumor and the third leading cause of cancer death worldwide. Most patients are diagnosed at an advanced...
Hepatocellular carcinoma (HCC) is the sixth most common malignant tumor and the third leading cause of cancer death worldwide. Most patients are diagnosed at an advanced stage, and systemic chemotherapy is the preferred treatment modality for advanced HCC. Curcumin (CUR) is a polyphenolic antineoplastic drug with low toxicity obtained from plants. However, its low bioavailability and poor solubility limit its functionality. In this study, radiofrequency- (RF) enhanced responsive nanoflowers (NFs), containing superparamagnetic ferric oxide nanoclusters (FeO NCs), - CUR layer, - and MnO (CUR-Fe@MnO NFs), were verified to have a thermal therapeutic effect. Transmission electron microscopy was used to characterize the CUR-Fe@MnO NFs, which appeared flower-like with a size of 96.27 nm. The in vitro experimental data showed that RF enhanced the degradation of CUR-Fe@MnO NFs to release Mn and CUR. The cytotoxicity test results indicated that after RF heating, the CUR-Fe@MnO NFs significantly suppressed HCC cell proliferation. Moreover, CUR-Fe@MnO NFs were effective / contrast agents for molecular magnetic resonance imaging due to the release of Mn and FeO NCs.
PubMed: 38887527
DOI: 10.3762/bjnano.15.49 -
Anaesthesia and Intensive Care Jun 2024A 32-year-old multigravida woman, with known familial hypokalaemic periodic paralysis, underwent spinal anaesthesia for an elective lower segment caesarean section....
A 32-year-old multigravida woman, with known familial hypokalaemic periodic paralysis, underwent spinal anaesthesia for an elective lower segment caesarean section. There are several case reports in the literature discussing the optimal anaesthetic technique. In the past there has not been an emphasis on aggressive and early potassium replacement. A target level to commence replacement of potassium at 4.0 mmol/L or less is proposed. Careful preoperative preparation, frequent perioperative monitoring and early potassium replacement resulted in no perioperative episodes of weakness in this case, in contrast with other case reports where potassium was either not monitored or not replaced early enough, resulting in postoperative attacks. Another factor to consider in hypokalaemic periodic paralysis is the avoidance of triggers, including certain medications. Misoprostol was used in this instance to avoid potential electrolyte derangements from other uterotonics.
PubMed: 38879798
DOI: 10.1177/0310057X231178840 -
Zhonghua Yi Xue Za Zhi Jun 2024Perioperative crisis events refer to unexpected seriously life-threatening when the patient is during or after surgery, and require rapid identification, evaluation, and...
Perioperative crisis events refer to unexpected seriously life-threatening when the patient is during or after surgery, and require rapid identification, evaluation, and management by clinical teams to minimize harm. The pediatric anesthesia management during perioperative period is special and challenging for anesthesiologists, requiring professional technical and non-technical skills. The article mainly elaborates on the incidence and risk factors of pediatric anesthesia crisis events during perioperative period and introduces the concept of anesthesia crisis resource management and strategies. The anesthesiologist team needs to adopt a crisis resource management strategy, taking a typical crisis event of malignant hyperthermia as an example, including identification of crisis signs immediately, termination of trigger drugs rapidly, intravenous injection of the special drug dantrolene, physical cooling, and symptomatic support treatment, seeking assistance from other teams actively, recording and feeding back. This study aims to improve the cognitive decision-making ability and teamwork ability of anesthesiologists and their teams, effectively preventing and responding to potential crisis events effectively, and ensuring the safety of pediatric patients during perioperative period.
Topics: Humans; Anesthesia; Child; Perioperative Period; Perioperative Care; Risk Factors; Anesthesiologists; Pediatrics; Patient Care Team; Malignant Hyperthermia; Pediatric Anesthesia
PubMed: 38871466
DOI: 10.3760/cma.j.cn112137-20231212-01365 -
Journal of Colloid and Interface Science Jun 2024The integration of functional nanomaterials with tissue engineering scaffolds has emerged as a promising solution for simultaneously treating malignant bone tumors and...
The integration of functional nanomaterials with tissue engineering scaffolds has emerged as a promising solution for simultaneously treating malignant bone tumors and repairing resected bone defects. However, achieving a uniform bioactive interface on 3D-printing polymer scaffolds with minimized microstructural heterogeneity remains a challenge. In this study, we report a facile metal-coordination self-assembly strategy for the surface engineering of 3D-printed polycaprolactone (PCL) scaffolds with nanostructured two-dimensional conjugated metal-organic frameworks (cMOFs) consisting of Cu ions and 2,3,6,7,10,11-hexahydroxytriphenylene (HHTP). A tunable thickness of Cu-HHTP cMOF on PCL scaffolds was achieved via the alternative deposition of metal ions and HHTP. The resulting composite PCL@Cu-HHTP scaffolds not only demonstrated potent photothermal conversion capability for efficient OS ablation but also promoted the bone repair process by virtue of their cell-friendly hydrophilic interfaces. Therefore, the cMOF-engineered dual-functional 3D-printing scaffolds show promising potential for treating bone tumors by offering sequential anti-tumor effects and bone regeneration capabilities. This work also presents a new avenue for the interface engineering of bioactive scaffolds to meet multifaceted demands in osteosarcoma-related bone defects.
PubMed: 38870763
DOI: 10.1016/j.jcis.2024.06.055 -
Neurology Jul 2024
Topics: Humans; Arthrogryposis; Female; Pregnancy; Myasthenic Syndromes, Congenital; Adult; Abnormalities, Multiple; Malignant Hyperthermia; Skin Abnormalities
PubMed: 38870465
DOI: 10.1212/WNL.0000000000209602 -
International Journal of Hyperthermia :... 2024This study aimed to investigate the feasibility, efficacy, and safety of focused ultrasound (FUS) for the treatment of vulvar low-grade squamous intraepithelial lesions...
OBJECTIVE
This study aimed to investigate the feasibility, efficacy, and safety of focused ultrasound (FUS) for the treatment of vulvar low-grade squamous intraepithelial lesions (VLSIL) with persistent symptoms.
METHODS
This retrospective analysis included 24 VLSIL patients who underwent FUS treatment. At each follow-up visit, the clinical response was assessed including changes in symptoms and signs. In addition, the histological response was assessed based on the vulvar biopsy results of the 3rd follow-up. Clinical and histological response were assessed to elucidate the efficacy.
RESULTS
A total of 22 patients completed follow-up and post-treatment pathological biopsies. After treatment, the clinical scores of itching decreased from 2.55 ± 0.51 to 0.77 ± 0.81 ( < 0.05). Furthermore, the clinical response rate and histological response rate were 86.4% and 81.8%, respectively. Only two cured patients indicated recurrence in the 3rd and 4th year during the follow-up period and achieved cure after re-treatment. In terms of adverse effects, only one patient developed ulcers after treatment, which healed after symptomatic anti-inflammatory treatment without scarring, and no other treatment complications were found in any patients. None of the patients developed a malignant transformation during the follow-up period.
CONCLUSION
This study revealed that FUS is feasible, effective, and safe for treating VLSIL patients with persistent symptoms, providing a new solution for the noninvasive treatment of symptomatic VLSIL.
Topics: Humans; Female; Feasibility Studies; Middle Aged; Adult; Squamous Intraepithelial Lesions; Retrospective Studies; Vulvar Neoplasms; Aged; Ultrasonic Therapy
PubMed: 38862420
DOI: 10.1080/02656736.2024.2365975