This document discusses Meige syndrome, which involves involuntary contractions of the muscles around the eyes (blepharospasm) and mouth (oromandibular dystonia). It can be primary or secondary to conditions like neuroleptic medication use or brain injuries. Pathophysiology may involve dopaminergic/cholinergic hyperactivity or decreased inhibitory neurons in the cortex. Diagnosis involves tests like EMGs and imaging to rule out other causes. Treatment options include anticholinergics, dopamine antagonists, Botox injections, and deep brain stimulation. Differential diagnoses include other movement disorders or neurological/psychiatric conditions.
India is the highest TB burden country accounting for more than one-fourth of the global incidence .Genital TB is found in 5-10% of women with infertility problems, with low rates in Australia (1%) and high rates of up to 19% in India (ICMR,2011)
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.
India is the highest TB burden country accounting for more than one-fourth of the global incidence .Genital TB is found in 5-10% of women with infertility problems, with low rates in Australia (1%) and high rates of up to 19% in India (ICMR,2011)
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.
Dementia is an umbrella term that can affect even young individuals. This presentation investigates causes, assessment, diagnosis, and treatment options.
Alzheimer's is the most common form of dementia, a general term for memory loss and other intellectual abilities serious enough to interfere with daily life. Alzheimer's disease accounts for 60 to 80 percent of dementia cases.
MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
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TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
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- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
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Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
Title: Sense of Smell
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 primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
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.
4. Primary
Secondary:
- Neuroleptic medication
- Head trauma, stroke, demyelination of brain stem
region, normal pressure hydrocephalus, cerebral
hypoxia, postoperative (bilateral thalamotomy),
kernicterus, space-occupying lesions, post-
encephalitis.
- Meige syndrome can be associated with other
movement disorders, like Parkinson disease,
Wilson disease, olivopontocerebellar atrophy, or
Lewy body diseas
Jahngir MU, Ameer MA, Patel BC. Meige syndrome. StatPearls [Internet]. 2021 Feb 25.
5. Dopaminergic and cholinergic hyperactivity
Decreased functioning of inhibitory neurons
(for example, GABAergic neurons) in the
cortex
Various environmental and genetic factors
In 33% of patients with Meige syndrome,
emotional stress may be a factor as their
primary symptoms are anxiety, depression,
and sleep problems
Jahngir MU, Ameer MA, Patel BC. Meige syndrome. StatPearls [Internet]. 2021 Feb 25.
6. Facial electromyography
MRI/CT brain to rule out the stroke or any
other brain lesion
Serum SSA/SSB level
Serum Cu and ceruloplasmin level
Beck's depression inventory
Serum drug screen
Jahngir MU, Ameer MA, Patel BC. Meige syndrome. StatPearls [Internet]. 2021 Feb 25.
7. Drug of choice: anticholinergics (e.g.,
trihexyphenidyl), dopamine antagonists (e.g.,
tiapride, tetrabenazine), GABA receptor agonists
(e.g., benzodiazepines, baclofen)
Others: antiepileptics (e.g., valproic acid), and a
number of psychoactive drugs. Eszopiclone,
nitrazepam, zolpidem
Botulinum A injection
Deep brain stimulation of globus pallidus interna
Jahngir MU, Ameer MA, Patel BC. Meige syndrome. StatPearls [Internet]. 2021 Feb 25.
