Div. Of Neurology, Dept. Of Medicine Ramathibodi Hospital .
Inherited ChannelopathiesTeeratorn PulkesDiv. of Neurology, Dept. of MedicineRamathibodi Hospital Mahidol University
Periodic paralysis family
αβ1ExtracellularIIIIVIIIIntracellularNa
Channelopathies Dysfunction of membrane-bound ionchannels Paroxysmal symptoms
Channelopathies Gating – Open conductingClose non-conducting Membrane potential voltage-gated Extracellular ligand ligand-gated
Na, K, (Cl)RestingDepolarisationVoltage-gated Na ch.Depolarised cellLigand-gated Na ch.Na influxRapid inactivation Na ch.RepolarisationActivated K ch.K effluxAction potentialNerve endingVoltage-gated Ca ch.Ach release
RestingDepolarisationNa, K, ClLigand-gated Na ch.Depolarised cellT-tubuleSRVotage-gated Ca ch.K accummulateRyanodine receptorCa influxMyoplasmMuscle contractionCl buffer
Clinical manifestationsPNSCNS Myotonia Migraine Periodic paralysis Ataxia Malignant hyperthermia Seizure Myasthenic Syndrome PKC
Myotonia
Myotonia Myotonia - muscles slow to relax, stiffeffect of exertion Cold effect Associated weakness - transientperiodicprogressive Painful spasms Daily/monthly fluctuation
Myotonia CongenitaThomsen’s - autosomal dominantBecker’s - autosomal recessive “Warm up” phenomenon Little worse with cold
Myotonia Congenita Anaesthetics may worsen stiffness Same gene responsible for both conditions Chloride ion channel - Chr.7q35, CLCN-1 gene
Paramyotonia CongenitaAutosomal dominant Myotonia worsens with exertion (paradoxical) Cold makes stiffness much worse Episodes of weakness especially after exercise Painful spasms more common Fluctuation over the same day
Paramyotonia Congenita Anaesthetics may worsen stiffness Diuretics and foods rich in potassium worsenthe conditions Sodium ion channel
NeurophysiologyRoutine EMG and NCS were normal apartfrom obvious myotonic dischargesCold immersion studies revealed a drop inCMAP
Treatment avoid things that bring on symptoms myotonia congenita – Mexiletine*Phenytoin paramyotonia congenita - AcetazolamideMexiletineSalbutamol
Hyperkalemic periodic paralysis AD Attacks of limb weakness Minutes to hours K early in attack Myotonia may be present
Hypokalemic periodic paralysis AD Attacks of generalised weakness Hours to days K during attack
Hypokalemic periodic paralysis No other medical cause Dysmorphism– Face, heart, hypoplastic kidney ECG– Ventricular arrhythmia
Treatment HyperPP or Hypo PP– NormoPP Rx as HyperPP Acute Preventive Rx
Treatment of HyperPP Acute– Acetazolamine– Thiazide diuretic Prevention of attacks– Acetazolamine– Thiazide diuretic– Dichlorphenamide
Treatment of HypoPP Acute– Oral potassium chloride Prevention of attacks– Acetazolamine– Dichlorphenamide
Malignant hyperthermia Fatal Follow exposure to general anesthesia Muscle rigidity, rhabdomyolysis Hyperthermia Shock, acidosis & hyperkalemia
Malignant hyperthermia AD Ca Channel Ryanodine receptor
Congenital myasthenic syndrome Ligand-gated ch. – Ach receptor Heterogeneous – AD or AR Early onset Weakness and fatigue EMG & Histopathology as MG
Periodic ataxias Acetazolamide–responsive episodicataxia 2 types Episodic ataxia type 1 (EA1) Episodic ataxia type 2 (EA2)
Periodic ataxiasEA1EA2OnsetChildhoodChildhoodDuration of attackSeconds to minutesHours to daysPrecipitantsStartle, sudden movementand stressStress and exerciseAdditional ictal symptomsNoneHeadache and nauseaInterictal signsMyokymiaNystagmus and progressiveataxiaInterictal EMGContinuous repetitivedischargesNormalResponse to acetazolamine VariableConsistently goodChannel affectedCa channelK channel
Ca channel Familial hemiplegic migraine – missensemutation EA2 – nonsense mutation SCA6 – CAG repeat expansion
We know Molecular pathology & pathophysiology Many diseases have available treatments Several medicines action on channels
Yet to be done Identify more Improve diagnostic methods Improve treatment
Acknowledgements NP Davies L Eunson MG Hannaกลับสู เมนูหลัก
Malignant hyperthermia Fatal Follow exposure to general anesthesia Muscle rigidity, rhabdomyolysis Hyperthermia Shock, acidosis & hyperkalemia. Malignant hyperthermia AD Ca Channel Ryanodine receptor. . Microsoft PowerPoint - Channel lecture khonkhan
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Vol-4 Issue-3 2018 IJARIIE-ISSN(O)-2395-4396 8582 www.ijariie.com 1291 Design and Performance Analysis of Helical Wind Turbine Anubhav Sharma1, Aman Kumar2, Mohit Kumar3, Alind Ojha4, Ravi Ranjan5 1 UG STUDENT, Dept. of ME, IMS Engineering College, Ghaziabad, Uttar Pradesh, India 2 UG STUDENT, Dept. of ME, IMS Engineering College, Ghaziabad, Uttar Pradesh, India /p div class "b_factrow b_twofr" div class "b_vlist2col" ul li div strong Author: /strong Anubhav Sharma, Mohit Kumar /div /li /ul ul li div strong Publish Year: /strong 2018 /div /li /ul /div /div /div
Chapter 27 The Real Options Model of Land Value and Development Project Valuation Major references include*: J.Cox & M.Rubinstein, “Options Markets”, Prentice-Hall, 1985 L.Trigeorgis, “Real Options”, MIT Press, 1996 T.Arnold & T.Crack, “Option Pricing in the Real World: A Generalized Binomial Model with Applications to Real Options”, Dept of Finance, /p div class "b_factrow b_twofr" div class "b_vlist2col" ul li div strong File Size: /strong 571KB /div /li /ul ul li div strong Page Count: /strong 109 /div /li /ul /div /div /div
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span class "news_dt" Oct 23, 2015 /span · Districts may be liable for non-supervision of students because there is no . these Student Transportation Guidelines provide standardized . Location Planning and Operating Guidelines. 2 strong ASCIP /strong has also prepared guidelines for regular school bus route trip transportation entitled /p div class "b_factrow b_twofr" div class "b_vlist2col" ul li div strong File Size: /strong 956KB /div /li /ul ul li div strong Page Count: /strong 32 /div /li /ul /div /div /div
