Dravet Syndrome and Antibiotic Treatments
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Questions and Answers

Which brain region is associated with vocalization during ictal fear episodes?

  • Temporal neocortex
  • Cingulate (correct)
  • Frontal eyefields
  • DLPFC/Orbitofrontal

What is a characteristic of Dravet Syndrome?

  • Epilepsy only during sleep
  • High IQ and cognitive abilities
  • Development and epileptic encephalopathy (correct)
  • Normal motor function

Which treatment is specifically mentioned for managing Dravet Syndrome?

  • Carbamazepine
  • Epidyolex (cannabidiol) (correct)
  • Oxcarbazepine
  • Lamotrigine

Which of the following characteristics corresponds to a function of the precentral region?

<p>Clonic and tonic movements (C)</p> Signup and view all the answers

What genetic factor is linked to approximately 80% of Dravet Syndrome cases?

<p>SCN1A gene (B)</p> Signup and view all the answers

Which antibiotic is used to treat infections caused by P.aeruginosa?

<p>Tobramycin (D)</p> Signup and view all the answers

What is a main function of elastase produced by P.aeruginosa?

<p>Acts as a virulence factor (D)</p> Signup and view all the answers

Which treatment is indicated for Aspergillus infections?

<p>Prednisolone (PO OD) (B)</p> Signup and view all the answers

What is the consequence of administering Cephalexin in young children regarding S.aureus?

<p>Decreases S.aureus while increasing P.aeruginosa (A)</p> Signup and view all the answers

Which antibiotic is used to treat MRSA infections?

<p>Vancomycin (D)</p> Signup and view all the answers

What is the mechanism of action of Aromatase Inhibitors like anastrozole?

<p>Reduce estrogen production by preventing aromatase activity (C)</p> Signup and view all the answers

Which statement correctly describes Selective Estrogen Receptor Downregulators (SERDs) like Fulvestrant?

<p>They inhibit gene transcription by preventing ER function. (B)</p> Signup and view all the answers

What type of mutations are associated with resistance to endocrine therapy in breast cancer?

<p>Mutations in ESR1 encoding ER-alpha (C)</p> Signup and view all the answers

How does RNA methylation affect treatment resistance in cancer therapy?

<p>It impairs antitumor immunity through aberrant m6A modifier expression. (A)</p> Signup and view all the answers

What impact does DNA methylation have in the context of endocrine therapy resistance?

<p>It silences tumor suppressor genes, contributing to resistance. (B)</p> Signup and view all the answers

What is the purpose of antimicrobial stewardship in the context of treating sepsis?

<p>To prevent the emergence of resistance (D)</p> Signup and view all the answers

Which statement best describes the structure of a phylogenetic tree?

<p>Tips represent the actual isolates being studied (D)</p> Signup and view all the answers

In the context of min spanning trees, what does the size of the nodes indicate?

<p>The proportion of the isolate in the sample (A)</p> Signup and view all the answers

Which of Koch's postulates is focused on the ability to re-isolate a microorganism from an infected host?

<p>The microorganism must be reisolated and identified as the causative agent (C)</p> Signup and view all the answers

What is the correct sequence of processes involved in bioinformatics analysis?

<p>Genomic data à bioinformatic analysis à data visualization (D)</p> Signup and view all the answers

What is the role of the PI3K/AKT pathway in ER+ cancers?

<p>It induces DNA hypermethylation. (B)</p> Signup and view all the answers

What is the effect of CDK4/6 inhibitors like Palbociclib in cancer treatment?

<p>They stimulate an antitumor immune response. (B)</p> Signup and view all the answers

Which marker indicates a positive progesterone receptor (PR) status?

<p>Staining in ≥1% of tumor cells. (C)</p> Signup and view all the answers

What characterizes HER2 in invasive breast cancer?

<p>It regulates cell growth and is located on chromosome 17. (A)</p> Signup and view all the answers

What happens in the absence of estrogen concerning the PI3K pathway?

<p>PI3K reactivates ER transcription. (B)</p> Signup and view all the answers

What is the significance of DNMT1 in relation to the ESR1 promoter?

<p>It is involved in promoter downregulation. (B)</p> Signup and view all the answers

What is a common risk management practice for individuals with a heightened risk of breast cancer?

<p>Chemoprevention strategies. (D)</p> Signup and view all the answers

What is noted as a key characteristic of ER+ breast cancers?

<p>They generally have a better prognosis. (C)</p> Signup and view all the answers

Which of the following is a factor contributing to hyperactivation of the Cyclin D-CDK4/6 complex in cancer?

<p>Loss of mitotic stimulation dependence. (D)</p> Signup and view all the answers

What is a challenge associated with 2D mammography screening?

<p>It often has a high false negative rate. (D)</p> Signup and view all the answers

What is the primary purpose of next generation sequencing (NGS) in microbiology?

<p>To predict bacterial resistance to antibiotics (C)</p> Signup and view all the answers

Which factors are used by NGS to assess antibiotic resistance?

<p>Known resistance genes, groups of genes, and mobile genetic elements (B)</p> Signup and view all the answers

How does combining epidemiological data with NGS aid in understanding antibiotic resistance?

<p>It provides a clearer picture of resistance dynamics. (A)</p> Signup and view all the answers

What does the presence of mobile genetic elements indicate in bacteria?

<p>Potential for gene transfer between bacteria (C)</p> Signup and view all the answers

What role do groups of genes play in predicting antibiotic resistance using NGS?

<p>They consist of clusters that can confer resistance together. (C)</p> Signup and view all the answers

In the context of clinical microbiology, what is an important implication of antimicrobial resistance?

<p>Higher risk of treatment failures and complications (D)</p> Signup and view all the answers

What is the significance of detecting known resistance genes in clinical microbiology?

<p>It helps determine suitable treatment options. (B)</p> Signup and view all the answers

What does the term 'healthcare-associated infection' refer to?

<p>Infections occurring in patients undergoing medical treatment. (D)</p> Signup and view all the answers

Which statement about opportunistic infections in immunocompromised patients is true?

<p>They can lead to severe complications or fatality. (B)</p> Signup and view all the answers

Which of the following best describes the importance of pathogen surveillance?

<p>It assists in identifying outbreaks and trends in infections. (D)</p> Signup and view all the answers

What is the foremost challenge presented by antimicrobial resistance in modern medicine?

<p>The increasing incidence of previously treatable infections. (A)</p> Signup and view all the answers

What could be a consequence of genetic aberrations in cancer treatment?

<p>Increased difficulty in predicting treatment responses. (B)</p> Signup and view all the answers

How does artificial intelligence (AI) enhance cancer diagnostics?

<p>By increasing the speed and accuracy of analyses. (A)</p> Signup and view all the answers

In public health, what is the primary role of epidemiological studies?

<p>To track the distribution and determinants of health-related events. (B)</p> Signup and view all the answers

Flashcards

FASTQ file

Similar to FASTA, but includes a quality score for each base.

Phylogenetic tree

A tree showing evolutionary relationships between organisms (isolates).

Bioinformatics pipeline

A set of algorithms for analyzing genomic data.

Koch's postulates

Criteria for proving a microorganism causes a disease.

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Min spanning tree

Tree connecting data points with minimal total distance.

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NIPPV

Non-invasive Positive Pressure Ventilation, a method of breathing support.

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P. aeruginosa

A type of bacteria resistant to many antibiotics and significant in lung infections.

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FEV and FVC increase

Better lung function values, typically indicate improvement in lung disease/function.

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Co-amoxiclav

An antibiotic used to fight H.Influenza and S.aureus infections.

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P. aeruginosa virulence factor

Features that make P. aeruginosa more dangerous, like elastase and alkaline phosphatase.

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Dravet Syndrome Symptoms

Severe myoclonic epilepsy in infancy, intellectual disability, and a typical gait disorder.

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Dravet Syndrome Cause

Often linked to mutations in the SCN1A gene (in about 80% of cases).

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Dravet Syndrome Treatment

Valproate, Levetiracetam, Clobazam, and Stiripentol are some common medications used.

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DLPFC/Orbitofrontal Dysfunction

Can lead to complex automatisms and dialeptic (seizure-like) events.

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Treatment for Epilepsy

Epidyolex (cannabidiol) and Felbamate may be used alongside other more common anti-seizure medications.

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SERMs (Selective Estrogen Receptor Modulators)

Drugs that block estrogen from binding to its receptor, inhibiting gene expression.

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Aromatase Inhibitors (AIs)

Drugs that reduce estrogen production by blocking the enzyme aromatase.

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SERDs (Selective Estrogen Receptor Downregulators)

Drugs that cause estrogen receptors to be unable to enter the nucleus and activate gene expression.

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DNA methylation and drug resistance

Changes in DNA methylation patterns can lead to drug resistance in cancer.

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Histone modification and cancer tx

Alterations in histone modifications (e.g., acetylation, methylation) can affect gene activity and cancer treatment response.

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Pathogen Genomics

Study of the genes of pathogens, including their evolution, spread, and resistance mechanisms.

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Next Generation Sequencing (NGS)

A method for quickly sequencing DNA, enabling parallel analysis of millions of DNA strands.

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Antimicrobial Resistance (AMR)

The ability of microbes to withstand the effects of drugs designed to kill them.

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Genomics

The study of all genes in an organism (genome) and its interactions with the environment.

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Clinical Microbiology

Branch of microbiology dedicated to the diagnosis, treatment, and prevention of infectious diseases.

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Phenotype

The observable physical or biochemical characteristics of an organism.

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Genotype

The genetic makeup of an organism (the genes themselves), determining traits.

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Polymerase Chain Reaction (PCR)

A method to make multiple copies of a specific DNA segment rapidly.

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Metagenomics

Study of genetic material extracted from environmental or clinical samples, often microbial.

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Short Read Sequencing

Sequencing method amplifying DNA fragments before sequencing.

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Long Read Sequencing

Sequencing DNA by reading nucleotide sequences at the single nucleotide level.

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Whole Genomic Sequencing

Sequencing the entirety of an organism's genome from start to finish.

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Amplicon Sequencing

Sequencing method identifying specific genetic variations targeted by PCR.

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Metagenomic Sequencing

Sequencing to identify the diverse bacterial types in a sample.

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Epidemiology

Study of the patterns, causes, and effects of health and disease conditions in defined populations.

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Public Health

Focuses on protecting and promoting the health of entire populations by applying research and practice to community health.

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Study Notes

Progress Test & Cap A++++

  • Progress test and cap
  • You can do it
  • Think simple
  • Abhilashini Gunaseelan
  • Head in the game

New Horizons (Clinical Microbiology)

  • Introduction to pathogen genomics
  • Evolution of diagnostics in clinical microbiology
  • Genetics: study of genes and their role in inheritance; describes certain traits
  • Reads: DNA sequence from one fragment; base pair combinations
  • Short read sequencing: amplifies fragment DNA and sequences it
  • Long read sequencing: reads nucleotide sequences at the single nucleotide level
  • Genomics: study of all genes in an organism; its interaction with the environment
  • In healthcare: diagnosis, research, surveillance, prognosis, personalized treatment, prediction
  • Human genome: 3 billion base pairs, diploid chromosomes
  • Mutation rate: 10^-7 to 10^-8
  • Pathogen genome: 170k - 4.6 million base pairs, haploid, circular & mobile genetic elements
  • Mutation rate: 10^-3 to 10^-4
  • Genomic sequencing: decoding genetic material
  • Whole genomic sequencing: determining the entirety of the genome
  • Amplicon sequencing: for genetic variations
  • Metagenomic sequencing: evaluates bacterial diversity, pathogen diversity
  • Bioinformatics: information about DNA and amino acids
  • FASTA file: text-based; nucleotide/peptide sequence in single-letter code
  • FASTQ file: same as FASTA; quality scores
  • Pipeline: set of complex algorithms
  • Phylogenetic tree: graphical representation of evolutionary relationships; node → branch → tip
  • Node labels: isolate ID
  • Node size: proportional to # of samples
  • Colors/lines: show how many differences between isolates
  • Clinical diagnostics: genotypic AMR prediction, polymicrobial infections
  • Environmental metagenomics: unbiased representation for surveillance, future trends
  • AMR gene or plasmid tracking: detect sources of transmission of AMR
  • Machine learning: predicts resistance from genomes, future trends in AMR
  • Global Antimicrobial Resistance and Use Surveillance System (GLASS): standardizes AMR surveillance, informs policies and IPC responses
  • Evolution of diagnostics: Polymerase Chain Reaction (PCR), Next-Generation Sequencing (NGS)
  • Role of clinical microbiology lab: diagnosis, treatment, protection/prevention

Clinical Medicine & Surgery (Orthopedics and Microbiology)

  • Prosthetic joint infections
  • Clinical trial process
  • Seizures
  • Cystic Fibrosis
  • Newborn screening, sweat chloride, genetic analysis, physiologic tests
  • Lung-related issues, digestive issues, bone-related issues
  • Clinical trial process
  • Phases: 1-4; duration of test, numbers of participants, purposes
  • Epilepsy syndromes
  • Generalized and Focal epilepsies; Absence seizures, Myoclonic jerks, Tonic-clonic seizures, Status Epilepticus
  • Causes: Infectious, Genetic, Traumatic
  • Treatment: Medication selection, Surgery
  • Osteoarthritis and Rheumatoid arthritis: diagnosis, management, comparison
  • Total Hip Replacement (THR), Hemiarthroplasty, complications, risk factors
  • Fracture types (neck of femur, intertrochanteric, subtrochanteric): clinical features, diagnosis, management
  • Knee replacement
  • Shoulder pathologies (tendonitis, tear, impingement, dislocation)
  • Hand/wrist fractures, conditions and conditions and (i.e. Carpal tunnel syndrome, Dupuytren's contracture)
  • Spine pathologies (disc prolapse, spinal stenosis, cervical spine fractures): symptoms, diagnosis, management
  • Foot/ankle pathologies: sprains, fractures, bunions, Plantar fasciitis, Achilles tendon ruptures
  • Bone and soft tissue tumors: benign and malignant tumors, presentation, diagnosis, management
  • Peripheral arterial disease, chronic and acute, atherosclerosis
  • Abdominal aortic aneurysm, conservative and surgical management
  • Varicose veins: causes, risk factors, presentations, management, and complications
  • Pulmonary embolism: risk factors, investigations, management, and complications
  • Post surgical complications
  • Wound infection, Cellulitis, SSI, Deep vein thrombosis (DVT), pulmonary embolism (PE), post-op ileus

Public Health

  • Epidemiology
  • Incidence
  • Prevalence
  • Parasitology
  • Ectoparasites, endoparasites (Helminths, protozoan)
  • Malignancy (causes, presentation, management, complications)
  • Malaria: infection, presentation, diagnosis, treatment
  • Public Health Campaigns, global funding, and partnerships
  • HIV and AIDS: transmission, management, and complications of treatment, stages
  • Opportunistic infections

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Progress Test & CAP PDF

Description

Test your knowledge on key characteristics of Dravet Syndrome, including treatment options, genetic factors, and the role of various antibiotics in managing infections like MRSA and Pseudomonas aeruginosa. This quiz covers important concepts in neurology and pharmacology related to these conditions.

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