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Genomic Imprinting Disorders

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Multiple Choice Questions in Neurology: Somatic cells form by two copies of alleles during the fertilization, one copy inherited from each parent. However, if gene expression occurs from only one allele i.e. one parent, is called genomic imprinting. Which of the following is/are associated with genomic imprinting disorders? Fragile X Syndrome Angelman Syndrome Myotonic Dystrophy Prader Willi Syndrome Huntington's Disorder Genomic Imprinting Disorders Normally, somatic cells form by two copies of alleles during the fertilization, one copy inherited from each parent. However, if gene expression occurs from only one allele i.e. one parent, is called genomic imprinting. Epigenetic phenomena do not involve alterations in the DNA sequence. It usually affects functional activity and expression of genes. Genomic imprinting is an epigenetic phenomena. Imprinted alleles/genes of the parent are silent. Only non-imprinted alleles/genes of parents are expressed in children. Imprinted alleles/ge

Diabetic Peripheral Neuropathy

Multiple Choice Questions in Neurology: A 50-year-old obese female patient presented in OPD with complaints of burning & tingling sensation in her feet for six months. She had off & on lower backache since six months. She had  medical history of dyslipidemia, hypertension and diabetes mellitus for the last five years. She was on Atorvastatin, Metoprolol, Losartan and Metformin. Examination of the patient revealed hyperesthesia and decreased vibration sense in the feet. Bilateral ankle jerks were absent. What could be the most probable diagnosis of this female? Diabetic Polyneuropathy Lumbosacral Radiculopathy Atorvastatin Induced Muscle Cramps Metformin can cause lactic acidosis and leads to muscle pain and cramps Discussion: Burning & tingling sensations are paresthesias. Predominantly distal paresthesias are suggestive of peripheral neuropathy. She was suffering from Diabetes mellitus, which also favors the diagnosis of peripheral neuropathy. Though, she ha

Pediatric Migraine Headache

High Yield Facts ⭆ 1. About fifty percent of the pediatric migraine patients continue to have migraine headache in adulthood. 2. Like adult migraine, Topiramate and Amitriptyline can be used as pharmacological prophylactic therapy in Pediatric Migraine. 3. Childhood onset migraine is a primary headache disorder. 4. Worldwide prevalence of Pediatric Migraine headache is around 7% to 8%. 5. About 30% of migraine patients, first start headache in childhood. 6. Before puberty, incidence of migraine headache is equal in male and female. Pediatric Migraine Headache Question True about Pediatric Migraine Headache, except: Pediatric migraine has no risk of developing adulthood migraine. Like adult migraine, Topiramate and Amitriptyline can be used as pharmacological prophylactic therapy in pediatric migraine Pediatric migraine headache is a primary headache Worldwide prevalence of pediatric migraine headache is around 7% to 8% References: Al-Twaijri, Waleed A., and Mic

Acetylcholine Receptors

High Yield Facts ⭆ Acetylcholine released in postsynaptic cleft and binds to α-subunit of acetylcholine receptor. When acetylcholine bind a nicotinic AchR, a conformational change occurs in the receptor, resulting in the formation of an ion pore. The opening of a ion pore produces a rapid increase in the cellular permeability of sodium and calcium ions, resulting in the depolarisation and excitation of the muscle cell. It activate the sodium channel and depolarizes the nerve fibers. Direction of transmission of nerve impulse from postsynaptic junction to nerve fibers. Question Which of the following ion channel opens, when acetylcholine (ACh) binds to acetylcholine receptor (AChR) at postsynaptic junction? Potassium (K) Chloride (Cl) Calcium (Ca) Sodium (Na) Acetylcholine Receptors Two types of Acetylcholine Receptor: Muscarinic Type: G-Protein Coupled Receptor. Slow metabolic response through intracellular secondary messenger system involving an increase of intracellula

Neuromuscular Junction

High Yield Facts ⭆ Synaptic transmission at the neuromuscular junction begins when an action potential reaches the presynaptic terminal of a motor neuron, which activates voltage dependent calcium channels to allow calcium ions to enter the neuron. Calcium ions bind to synaptic vesicles, triggering vesicle fusion with the cell membrane and subsequent neurotransmitter release from the motor neuron into the synaptic cleft. Motor neurons release acetylcholine (ACh) neurotransmitter, which diffuses across the synaptic cleft and binds to nicotinic acetylcholine ionotropic receptors (nAChRs) on the cell membrane of the muscle fiber. The binding of ACh to the receptor can depolarize the muscle fiber, results in muscle contraction. Normally, Acetylcholine (ACh) binds to α-subunit of Acetylcholine Receptor (AChR) at postsynaptic junction. Which ion is responsible for transmission of impulse from postsynaptic junction to nerve fibers? Chloride (Cl) Calcium (Ca) Sodium (Na) Magnesium (Mg)

Blood Supply of Spinal Cord

How many spinal arteries supply the human spinal cord? Three Arteries Four Arteries Five Arteries Two Arteries Blood Supply of Spinal Cord Arterial Supply The spinal cord is supplied by Three Longitudinal Arteries : One Anterior Spinal Artery supplies the anterior two-thirds of the spinal cord. Two Posterior Spinal Arteries supply the posterior one-third of the spinal cord. [Mnemonics: Posterior is Paired, Posterior = Paired] Venous Drainage There is a complex network of intrinsic, extrinsic, and extradural systems. The anterior and posterior spinal veins and anterior and posterior radicular veins are freely communicate with the internal vertebral plexus in the epidural space. This drains into the cerebral dural venous sinuses and cerebral veins as well as the external vertebral plexus. The veins of the spinal cord and vertebral column are valveless. Reference: Bosmia AN, Hogan E, Loukas M, Tubbs RS, Cohen‐Gadol AA. Blood supply to the human spinal cord: part

Which of the following is a Histone Deacetylase Inhibitor?

Question: Which of the following is a Histone Deacetylase Inhibitor? Phenytoin Sodium Valproate Carbamazepine Levetiracetam  Histone Deacetylase Inhibitor Histone deacetylase-9 (HDAC9) gene is associated with pathogenesis of large artery ischemic stroke. HDAC9 inhibitor may prevent ischemic stroke. Sodium Valproate is a nonspecific Histone Deacetylase Inhibitor. Sodium Valproate therapy given after ischemic stroke may be associated with reduced recurrent stroke rate. Reference: Brookes RL, Crichton S, Wolfe CD, Yi Q, Li L, Hankey GJ, Rothwell PM, Markus HS. Sodium Valproate, a Histone Deacetylase Inhibitor, Is Associated With Reduced Stroke Risk After Previous Ischemic Stroke or Transient Ischemic Attack. Stroke. 2018 Jan;49(1):54-61. [Answer is 2. Sodium Valproate]