41st Annual Meeting of the EMHG

Programme Outline   (*Social Programme)

Wednesday 3rd May 2023

  • 16.00 – 17.00 h  Executive Committee Meeting
  • 20.00 – 21.30 h *Welcome cocktail & Live Jazz Concert

Thursday 4th May 2023

  • 08.30 – 9.00 h Registration
  • 09.00 – 9.30 h Welcome
  • 09.30 – 10.30 h Young Members Session (All members are welcome)
  • 10.30 – 11.00 h Coffee, Tea & cakes
  • 11.00 – 13.00 h  Scientific Session 1

11.00- Filling the gap – a first look at 140 UK malignant hyperthermia exomes. Catherine Daly.

11:15- The North American Malignant Hyperthermia Registry (NAMHR). Anna Woods.

11.30- Investigating patients with malignant hyperthermia by gene panel testing in Japan. Hirotsugu Miyoshi.

11.45- Susceptibility to Malignant Hyperthermia in Spain: Preliminary results from La Paz University Hospital Cohort. Gabriela Alcaraz García-Tejedor.

12.00- Long read sequencing of RYR1 haplotypes in Malignant Hyperthermia families. Mohammad Saleh.

12.15- Association of CASQ1 gene variants with MH development in the Japanese population. Yuko Noda.

12.30- GUIDELINES

  • 13.00 – 14.30 h Lunch // Board of Directors #1 – WORKING LUNCH //
  • 14.30 – 16.00 h Scientific Session 2

14.30- Native American myopathy with dysmorphisms and malignant hyperthermia is also a concern for Brazilian anesthesiologists: case series. Mary dos Santos Silva.

14.45- Correlation between phenotypical variability and RYR1 variants haplotypes in a family with Malignant Hypertermia suggesting additive effect of polymorphic variants. Mariz Vainzof.

15.00- Malignant Hyperthermia During Sleeve Lobectomy for Resection of a Proximal Endobronchial Tumor. James Moshinsky.

15.15- Rhabdomyosarcoma, malignant hyperthermia, core myopathy, and RYR1/ASPSCR1 variants: A case study. Helga Silva.

15.30- STAC-3-related Myopathy with Cleft palate; What the Anesthesiologists Need to Know Pre-operatively? Momen Almomen.

  • 16.00 – 16.30 h Tea & cakes
  • 16.30 – 17.30 h LISE CONNELLY/PATIENTS
  • 17.30 – 18.30 h *Guided Walking tour Valencia centre
  • 20.00 – 24.00 h *Bus / Gala dinner (Contrapunto restaurant)

Friday 5th May 2023

  • 09.00 – 10.20 h          Scientific Session 3 — DISCUSSION PANEL Chairs: Sheila Riazi / Phil Hopkins

09.00- Developing a metabolic test in vivo for malignant hyperthermia: An overview. Sarah Miles.

09.10- Discovering and validating biomarkers using metabolomics in muscle samples from MHsusceptible patients. Coral Barbas.

09.20- Small scale metabolomics/lipidomics methods . Gunda Koellensperger.

09.30- In-vivo Chemical Biopsy SPME Device. Janusz Pawliszyn.

09.40- Utilization of chemical biopsy in metabolomic profiling of Malignant hyperthermia and assessment of the technology potential in diagnostics of the disease. Barbara Bojko.

09.50- Optimizing and validating in vivo SPME mass spectrometry in MH animal models, Clinical trial to assess the sensitivity of the new metabolic test in vivo for diagnosing MH susceptibility. Oscar Díaz-Cambronero / Carlos Ibarra.

  • PANEL DISCUSSION – Chairs: Sheila Riazi / Phil Hopkins
  • 10.30 – 11.00 h          Coffee, Tea & cakes 
  • 11.00 – 11:45 h          Scientific Session 4

11.00- Comparison between halothane contracture responses of MHSh and MHShc patients. Huw Garland.

11.15- Effect of sevoflurane concentration on the development of malignant hyperthermia in a malignant hyperthermia mouse model. Kenshiro Kido.

11.30- Investigating candidate modifier loci in MH susceptibility using CRISPR/Cas gene editing. Rohan Paranjpe.

  • 12.00 – 13.00 h         FILIP VAN PETEGEM “Structural studies of disease-associated mutations in RyR1 and its associated proteins”
  • 13.00 – 14.30 h          Lunch
  • 14.30 – 16:00 h         Scientific Session 5

14.30- Caffeine-induced jaw spasm as a controversial risk factor for MH? Internal audit. Martina Klincová.

14.45- A Retrospective Review of the Clinical Grading System and Dantrolene Formulations Administered to Subjects Registered in the North American Malignant Hyperthermia Registry (NAMHR) 2013-2022. Amy Gunnett.

15.00- Analysis of the factors that influenced the concordant/discordant diagnosis of the European and North American contracture tests. Pamela Vieira de Andrade.

15.15 WORKING GROUPS

  • 16.00 – 17:00 h         Annual General Meeting, Executive Committee Elections, Presentation of Prizes.
  • 17.00 h                        Close meeting
  • 18:00 h/19:00 h/20:30 h             *Optional: Bus / catamaran / Dinner (La Maritima restaurant)