Coexistence of sodium and chloride channelopathies: A complex phenotype with features of myotonia congenita and paramyotonia congenita

Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy disorders. This case study presents a 34-year-old female patient with a complex phenotype involving features of both myotonia congenita (MC) and paramyotonia congenita (PMC). Initially presenting with asthenia, weakness, and limb stiffness in her second decade of life, her symptoms gradually worsened over time. She experienced frequent retrosternal compression, tachycardia, stiffness, and symmetrical pain in her lower limbs. Clinical examination and electromyography confirmed severe lid lag myotonia, hypertrophy in all four limbs, and myotonic discharges. Exposure to cold triggered her symptoms, significantly impacting her daily life. Initial treatment with mexiletine was switched to acetazolamide due to gastrointestinal side effects. Genetic analysis revealed a new variant, p.Glu1607del, in SCN4A and homozygosity for p.Met485Val in CLCN1. This case underscores the importance of accurate diagnosis and appropriate therapy guided by an expert neurologist. Keywords: myotonia, paramyotonia, channelopathies, CLCN1, SCN4A

COVID-19 vaccine hesitancy, local trust and local studies

Pokee N, Yasri R. Long term follow-up of pediatric cases with neurocysticercosis who received long-term albendazole therapy. Adv Trop Med Pub Health Int. 2023; 13: 3 - 4. ABSTRACT In this short letter, the authors provide data on a long term follow-up of 13 cases of pediatric cases with neurocysticercosis who received long-term albendazole therapy. The long-term albendazole therapy is proven effective and safe. Also, the cessation of drug after being adult is also proven a valid practice.

ong term follow-up of pediatric cases with neurocysticercosis who received long-term albendazole therapy

Pokee N, Yasri R. Long term follow-up of pediatric cases with neurocysticercosis who received long-term albendazole therapy. Adv Trop Med Pub Health Int. 2023; 13: 3 - 4. ABSTRACT In this short letter, the authors provide data on a long term follow-up of 13 cases of pediatric cases with neurocysticercosis who received long-term albendazole therapy. The long-term albendazole therapy is proven effective and safe. Also, the cessation of drug after being adult is also proven a valid practice.

Langya henipavirus: the newest zoonotic virus threat

Pokee N, Zhao R. Langya henipavirus: the newest zoonotic virus threat. Adv Trop Med Pub Health Int. 2023; 13: 5 - 6. ABSTRACT In this short letter, the authors provide data on a new emerging infectious disease, Langya heniparvirus infection. The zoonosis possibility is discussed. The disease is a new public health problem to be concerned. Key words: Langya henipavirus, emerging, zoonosis