Anesthesiologists have been at the forefront of initiatives addressing perioperative patient safety. As anesthesia has no direct therapeutic benefit, its risk must be minimized. At times the surgery is simple but the patient’s condition complicates anesthetic management, increasing the risk for complications. This report describes the anesthetic management of an adult patient diagnosed with inclusion body myositis (IBM), a rare inflammatory degenerative myopathy, who initially presented with decreased motor function in both lower and upper extremities causing him to be bedbound for two years. Due to the progression of his disease, he eventually developed dysphagia, hence he was scheduled for esophagoscopy, cricopharyngeal Botox injection, and percutaneous endoscopic gastrostomy. As patients with IBM are at risk for exaggerated sensitivity to neuromuscular blockers and respiratory compromise, anesthesia was at the helm of a multidisciplinary team approach. The perioperative management centered on preoperative optimization, prevention of aspiration, avoidance of anesthetics that may trigger malignant hyperthermia, and prevention of postoperative pulmonary complication. The hospital course was uncomplicated and the patient was discharged well after one day. This report emphasizes how improvements in resources, technology, and healthcare delivery, especially in anesthesia, help prevent perioperative adverse events.
Patient Safety ; Myositis, Inclusion Body ; Malignant Hyperthermia

Humans ; Abdomen ; Dantrolene ; East Asian People ; Malignant Hyperthermia

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with multiple pterygium syndrome (MPS). METHODS: A child with MPS who was treated at the Orthopedics Department of Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University on August 19, 2020 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were also collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing of her parents and bioinformatic analysis. RESULTS: The child, an 11-year-old female, had a complain of "scoliosis found 8 years before and aggravated with unequal shoulder height for 1 year". WES results revealed that she has carried a homozygous c.55+1G>C splice variant of the CHRNG gene, for which both of her parents were heterozygous carriers. By bioinformatic analysis, the c.55+1G>C variant has not been recorded by the CNKI, Wanfang data knowledge service platform and HGMG databases. Analysis with Multain online software suggested that the amino acid encoded by this site is highly conserved among various species. As predicted with the CRYP-SKIP online software, the probability of activation and skipping of the potential splice site in exon 1 caused by this variant is 0.30 and 0.70, respectively. The child was diagnosed with MPS. CONCLUSION The CHRNG gene c.55+1G>C variant probably underlay the MPS in this patient.
Humans ; Child ; Female ; Abnormalities, Multiple/genetics* ; Malignant Hyperthermia/genetics* ; Skin Abnormalities/genetics* ; Heterozygote ; Mutation ; Receptors, Nicotinic/genetics*

BACKGROUND: The selection of anesthetic agents is important in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome patient because serious and unexpected complications can occur after anesthetic exposure.CASE: A 30-year-old man with MELAS syndrome and sepsis underwent colectomy. Propofol was administered by step-wise until target effect-site concentration (Ce) 1.0 µg/ml and stopped for the loss of consciousness and to avoid hemodynamic instability. After the loss of consciousness, total intravenous anesthesia (TIVA) using dexmedetomidine (1.0 µg/ml/h) and remifentanil (1–4 ng/ml of Ce) was performed for the maintenance of anesthesia to avoid malignant hyperthermia and mitochondrial dysfunction. During the surgery, the bispectral index score stayed between 26 and 44, and increased to 97 after the end of anesthesia.CONCLUSIONS: TIVA with dexmedetomidine and remifentanil as non-triggering anesthetic agents in patients with MELAS syndrome and systemic sepsis may have advantages to decrease damages associated with mitochondrial stress and metabolic burden.
Adult ; Anesthesia ; Anesthesia, Intravenous ; Anesthetics ; Colectomy ; Dexmedetomidine ; Hemodynamics ; Humans ; Malignant Hyperthermia ; MELAS Syndrome ; Propofol ; Sepsis ; Unconsciousness

A male patient weighing 2.5 kg was admitted for respiratory difficulty, and a large ventricular septal defect (VSD) was diagnosed. During care, sudden right leg swelling with a femur shaft fracture occurred. The patient's father had a history of recurrent lower extremity fractures; thus, osteogenesis imperfecta was considered. The patient's respiratory difficulty became aggravated, and VSD repair in the neonatal period was therefore performed with gentle sternal traction and great vessel manipulation under total intravenous anesthesia to prevent malignant hyperthermia. The patient was discharged without notable problems, except minor wound dehiscence. Outpatient genetic testing revealed that the patient had a COL1A1/COL1A2 mutation.
Anesthesia, Intravenous ; Fathers ; Femur ; Genetic Testing ; Heart Septal Defects, Ventricular ; Humans ; Infant, Newborn ; Leg ; Lower Extremity ; Male ; Malignant Hyperthermia ; Osteogenesis Imperfecta ; Osteogenesis ; Outpatients ; Thoracic Surgery ; Traction ; Wounds and Injuries

No abstract available.
Dantrolene ; Malignant Hyperthermia

BACKGROUND: Malignant hyperthermia is a rare but potentially fatal complication of anesthesia, and several different cognitive aids designed to facilitate a timely and accurate response to this crisis currently exist. Eye tracking technology can measure voluntary and involuntary eye movements, gaze fixation within an area of interest, and speed of visual response and has been used to a limited extent in anesthesiology. METHODS: With eye tracking technology, we compared the accessibility of five malignant hyperthermia cognitive aids by collecting gaze data from twelve volunteer participants. Recordings were reviewed and annotated to measure the time required for participants to locate objects on the cognitive aid to provide an answer; cumulative time to answer was the primary outcome. RESULTS: For the primary outcome, there were differences detected between cumulative time to answer survival curves (P < 0.001). Participants demonstrated the shortest cumulative time to answer when viewing the Society for Pediatric Anesthesia (SPA) cognitive aid compared to four other publicly available cognitive aids for malignant hyperthermia, and this outcome was not influenced by the anesthesiologists’ years of experience. CONCLUSIONS: This is the first study to utilize eye tracking technology in a comparative evaluation of cognitive aid design, and our experience suggests that there may be additional applications of eye tracking technology in healthcare and medical education. Potentially advantageous design features of the SPA cognitive aid include a single page, linear layout, and simple typescript with minimal use of single color blocking.
Anesthesia ; Anesthesiology ; Delivery of Health Care ; Education, Medical ; Eye Movements ; Malignant Hyperthermia* ; Volunteers

Fever (body temperature above 38℃) is relatively common during the first few days after general anesthesia. Postoperative fever is usually caused by the inflammation induced by surgery and resolves spontaneously; however, it can be a manifestation of a serious complication such as malignant hyperthermia. We report a case of postoperative hyperthermia (body temperature > 40℃) that was refractory to conventional anti-pyretic measures and finally resolved with dantrolene administration.
Anesthesia, General* ; Dantrolene* ; Fever ; Humans ; Inflammation ; Malignant Hyperthermia* ; Postoperative Period

OBJECTIVETo carry out mutation analysis for a Chinese family affected with Escobar syndrome.

METHODSWhole exome sequencing (WES) was employed to detect potential mutation in the proband. Suspected mutations were validated by combining clinical data and result of Sanger sequencing.

RESULTSA homozygous missense mutation c.715C>T (p.R239C) was detected in the proband and his brother who was also affected. The parents and the daughters of the proband carried the heterozygous mutation c.715C>T, while other family members did not carry the mutation.

CONCLUSIONEscobar syndrome is a rare genetic disorder. WES is able to discover genetic mutation underlying this disorder and facilitate genetic counseling and prenatal diagnosis for the affected family.

Abnormalities, Multiple ; genetics ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; DNA Mutational Analysis ; Exome ; Female ; Heterozygote ; Homozygote ; Humans ; Male ; Malignant Hyperthermia ; genetics ; Molecular Sequence Data ; Pedigree ; Skin Abnormalities ; genetics ; Young Adult

Malignant hyperthermia (MH) may lead to metabolic crisis of skeletal muscle in susceptible individuals following exposure to triggering agents such as volatile anesthetics or depolarizing muscle relaxants. MH is a rare and a potentially lethal disease, which can lead to cardiac arrest. We report a case of severe MH, in which the rapidly evolving signs of hypermetabolism eventually resulted in cardiac arrest. Despite conventional treatments following cardiopulmonary resuscitation, the patient's vital signs did not improve. Therefore, we applied extracorporeal membrane oxygenation for providing hemodynamic support.
Anesthetics ; Cardiopulmonary Resuscitation* ; Dantrolene ; Extracorporeal Membrane Oxygenation* ; Heart Arrest* ; Hemodynamics ; Humans ; Malignant Hyperthermia* ; Muscle, Skeletal ; Neuromuscular Depolarizing Agents ; Vital Signs