Paroxysmal kinesigenic dyskinesia (PKD) is a neurological disorder characterized by brief episodes of involuntary movements triggered by sudden movements. It is most common among children and adolescents of Asian descent. Episodes typically last less than one minute and are often triggered by activities like standing, running, or moving suddenly. The primary cause of PKD is mutations in the PRRT2 gene. Diagnosis is based on clinical history and examination findings, and treatment involves low-dose anti-seizure medications or lifestyle adaptations to avoid triggers.
A neuromuscular disorder that leads to weakness of skeletal muscles.
Symptoms
Causes
Prevention
Complications
Common tests & procedures
Neurological examination:
Repetitive nerve stimulation test:
Antibody test:
Pulmonary function tests (PFTs): To check any breathing difficulty.
CT scan: To rule out a presence of tumor in thymus.
Magnetic resonance imaging (MRI): MRI of the chest is performed to rule out a presence of tumor in thymus.
Edrophonium (Tensilon) test:
Medication
Procedures
Nutrition
A neuromuscular disorder that leads to weakness of skeletal muscles.
Symptoms
Causes
Prevention
Complications
Common tests & procedures
Neurological examination:
Repetitive nerve stimulation test:
Antibody test:
Pulmonary function tests (PFTs): To check any breathing difficulty.
CT scan: To rule out a presence of tumor in thymus.
Magnetic resonance imaging (MRI): MRI of the chest is performed to rule out a presence of tumor in thymus.
Edrophonium (Tensilon) test:
Medication
Procedures
Nutrition
The following disorders are unique genetic neurological disorders .docxrhetttrevannion
The following disorders are unique genetic neurological disorders that result in varied clinical presentations and outcomes for patients.
Neurofibromatosis divided into type one (NF1) and type 2 (NF2) are autosomal dominant neurocutaneous disorders that results in altered genes that causes dysregulation of tumor suppression (Defendi, 2022). NF1 is more common and occurs in one out of every 3,500 births (Germanwala, n.d.). NF1, there is a deletion of the NF1 gene that produces neurofibromin 1 that activates the protein ras-GTPas which is involved with cellular signal transduction (Defendi, 2022). Without the NF1 gene there is an overactive ras-GTPas resulting in the activation of other proteins, in turn activating genes for cell growth and differentiation leading to benign or malignant tumors (Defendi, 2022). Common benign tumors include cutaneous neurofibromas, plexiform neurofibromas and optic nerve gliomas (Defendi, 2022). Patients with NF1 present with a family history of the disorder, six or more of the café-au-lait spots on the skin, freckling in the underarms and groin, presence neurofibromas (about pea-sized) on or just under skin, plexiform neurofibromas, Lisch nodules, skeletal abnormalities and have the potential for tumors on the optic nerve (Germanwala, n.d.). Additionally, these patients may present with macrocephaly, short stature, are at risk for seizures, learning disabilities, speech issues and hyperactivity (Germanwala, n.d.).
Cri-du-chat syndrome is a chromosomal disorder, also known as 5p minus syndrome where there is a deletion of the variable size on the short arm of chromosome 5 (Mainardi, 2006). Since this disorder is a syndrome, there are several clinical features that are common in the presentation of this disorder including microcephaly, large nasal bridge, hypertelorism, epicanthal folds, downward slanting palpebral fissures, down-turned corners of the mouth, low-set ears, micrognathia, abnormal dermatoglyphics and the hallmark high-pitched cry (Mainardi, 2006). The cry is a result of structural abnormalities of the larynx caused by laryngeal hypoplasia and central nervous system (Lal, 2021). The central nervous system deficit is noted in the “…clivus region of the cranial base with the laryngeal region from which the characteristic cry derived” (Lal, 2021). Neurologically, these patients have developmental and psychomotor delay, with varied levels of abilities. Patients also present with hypotonia which progresses to hypertonia with age. On magnetic nuclear resonance imaging, brainstem atrophy has been noted including the pons, cerebellum, median cerebellar peduncles and cerebellar white matter” (Mainardi, 2006).
Tay-Sachs Disease also known as GM2 gangliosidosis, is a fatal autosomal recessive disorder caused by the HexA gene found on chromosome 15 (McCance & Huether, 2014). The deficiency in the lysosomal enzyme hexosaminidase A (HexA) results in decreased degradation in GM2 gangliosi.
A case report of posterior reversible encephalopathy syndrome in a patient di...bijnnjournal
Posterior reversible encephalopathy syndrome (PRES), a clinical radiological syndrome, is characterized by the
abrupt development of neurological symptoms such as headaches, convulsions, altered sensorium, and visual
problems. PRES has been linked to a number of risk factors or etiologies, including the use of immunosuppressants
or cytotoxins, hypertensive encephalopathy, eclampsia, preeclampsia, and underlying autoimmune diseases.
A 41-year-old female was admitted with acute necrotizing emphysematous pancreatitis complicated by posterior
reversible encephalopathy syndrome
Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
Rasamanikya is a excellent preparation in the field of Rasashastra, it is used in various Kushtha Roga, Shwasa, Vicharchika, Bhagandara, Vatarakta, and Phiranga Roga. In this article Preparation& Comparative analytical profile for both Formulationon i.e Rasamanikya prepared by Kushmanda swarasa & Churnodhaka Shodita Haratala. The study aims to provide insights into the comparative efficacy and analytical aspects of these formulations for enhanced therapeutic outcomes.
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Integrating Ayurveda into Parkinson’s Management: A Holistic ApproachAyurveda ForAll
Explore the benefits of combining Ayurveda with conventional Parkinson's treatments. Learn how a holistic approach can manage symptoms, enhance well-being, and balance body energies. Discover the steps to safely integrate Ayurvedic practices into your Parkinson’s care plan, including expert guidance on diet, herbal remedies, and lifestyle modifications.
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2. Introduction
Paroxysmal Dyskinesias are a group of
neurological diseases characterized by
intermittent episodes of involuntary
movements with different causes
Dystonia, chorea, ballism, or a combination
thereof
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert
consensus in China. Translational Neurodegeneration. 2021 Dec;10(1):1-0.
3. Paroxysmal Dyskinesias
Paroxysmal kinesigenic dyskinesia (PKD)
- Most common
- First described by Kertesz in 1976
Paroxysmal nonkinesigenic dyskinesia
(PNKD)
Paroxysmal exercise-induced dyskinesia
(PED)
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert
consensus in China. Translational Neurodegeneration. 2021 Dec;10(1):1-0.
Kertesz A. Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. Neurology. 1967;17(7):680–90.
5. Epidemiology
Prevalence: 1:150,000 individuals
Asian ethnicity and are from China and Japan,
followed by North America and Europe
Age of onset: several months to 20 years, with
a particularly high incidence among 7- to 15-
year-old children and adolescents
Males > females
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert
consensus in China. Translational Neurodegeneration. 2021 Dec;10(1):1-0.
6. Triggers
Sudden standing, starting to run, getting on
and off a car, and encountering traffic lights
Changes in the speed or amplitude of
movements, addition of another type of
movement during an activity, or even the intent
to move can also cause an attack
Episodes are more likely to be triggered when
an individual is under emotional stress,
stimulated by a sound or image, or
hyperventilating
Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology.
Huang XJ, Wang SG, Guo XN, Tian WT, Zhan FX, Zhu ZY, et al. The phenotypic and genetic spectrum of paroxysmal kinesigenic dyskinesia in China. Mov Disord.
2020;35(8):1428–37.
Bhatia KP. Paroxysmal dyskinesias. Mov Disord. 2011;26(6):1157–65.
7. Aura
Abnormal sensations prior to the appearance of
involuntary movements induced by a sudden
movement or movement intention
Difficult to describe accurately and differs by
individual
78–82% of patients with PKD may experience
aura
Most common: numbness, tingling, and muscle
weakness
Some patients have been able to alleviate the
dyskinesia attack by slowing their movements
when experiencing aura
In some cases, aura appears in isolation without
subsequent dyskinesia attacks
Bhatia KP. Paroxysmal dyskinesias. Mov Disord. 2011;26(6):1157–65.
Huang XJ, Wang SG, Guo XN, Tian WT, Zhan FX, Zhu ZY, et al. The phenotypic and genetic spectrum of paroxysmal kinesigenic dyskinesia in China. Mov Disord.
2020;35(8):1428–37.
Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology.
8. Attack Forms
Unilateral or bilateral
Dystonia is the most common, followed by
chorea and ballism
Face involvement: 70 % of patients: face
twitching, rigidity of facial muscles and
dysarthria, which may be related to
the dystonia of facial or laryngeal muscles
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert
consensus in China. Translational Neurodegeneration. 2021 Dec;10(1):1-0.
9. Duration and Frequency of
Attacks
< 1 min in over 98% of patients
For patients with prolonged duration, the
secondary factors of PKD should be excluded
Frequency: ranging from several times a year to
more than 100 times per day
The frequency of PKD attacks usually peaks
during puberty and decreases after the age of
20 years
Some patients rarely experience attacks or even
experience spontaneous remission of the disease
after the age of 30 years
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert
consensus in China. Translational Neurodegeneration. 2021 Dec;10(1):1-0.
10. Clinical Classification
Pure form: only kinesigenic dyskinesia
Complicated form: present with neurological
symptoms in addition to the kinesigenic
dyskinesia
- These combined manifestations include
benign familial infantile epilepsy (BFIE), febrile
convulsion, migraine, hemiplegic migraine,
episodic ataxia, epilepsy and other episodic
diseases
- A few patients exhibit developmental delay,
intellectual deficit, language dysfunction or
Erro R, Bhatia KP. Unravelling of the paroxysmal dyskinesias. J Neurol Neurosurg Psychiatry. 2019;90(2):227–34.
Delcourt M, Riant F, Mancini J, Milh M, Navarro V, Roze E, et al. Severe phenotypic spectrum of biallelic mutations in PRRT2 gene. J Neurol Neurosurg Psychiatry.
2015;86(7):782–5.
Weber A, Kohler A, Hahn A, Neubauer B, Muller U. Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.
Neurogenetics. 2013;14(3–4):251–3.
11. Etiology and Pathogenesis
Primary PKD - PRRT2 is the major causative gene for
PKD
- Familial: autosomal dominant (60-90%)
- Sporadic
Secondary PKD
- Demyelinating diseases of the central nervous
system, cerebrovascular diseases, traumatic brain
injury, or metabolic abnormalities
- Most common: relapsing-remitting multiple sclerosis
- Calcification of the basal ganglia, including the
idiopathic basal ganglial calcification and the basal
ganglial calcification secondary to hypoparathyroidism
or pseudo-parathyroidism
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert
consensus in China. Translational Neurodegeneration. 2021 Dec;10(1):1-0.
12. Diagnosis Criteria
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert
consensus in China. Translational Neurodegeneration. 2021 Dec;10(1):1-0.
13. Diagnosis Algorhytm
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang
Q. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic
dyskinesia: an expert consensus in China. Translational Neurodegeneration. 2021
14. Differential Diagnosis
Epilepsy
Primary PNKD
PED
Psychological movement disorders and
pseudoseizures
Tics
Hyperekplexia
Sandifer Syndrome
Benign paroxysmal torticollis
Transient dystonia of infancy
Benign myoclonus of early infancy
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert
consensus in China. Translational Neurodegeneration. 2021 Dec;10(1):1-0.
15. Treatment
Medication:
- Low-dose carbamazepine (50–200 mg/day) or
oxcarbazepine (75–300 mg/day)
- Second line: lamotrigine, topiramate, and
phenytoin sodium
Psychotherapy
Treat underlying diseases in secondary PKD
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert
consensus in China. Translational Neurodegeneration. 2021 Dec;10(1):1-0.
16. Summary
PKD is a type of paroxysmal dyskinesia with
high clinical and genetic heterogeneity
Rare
The diagnosis of PKD is based mainly on
clinical features, and necessary evaluations
are needed to exclude secondary etiologies
Personalized medical therapy and
psychotherapy are recommended.