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?

Clonic and tonic movements Signup and view all the answers

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

SCN1A gene Signup and view all the answers

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

Tobramycin Signup and view all the answers

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

Acts as a virulence factor Signup and view all the answers

Which treatment is indicated for Aspergillus infections?

Prednisolone (PO OD) Signup and view all the answers

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

Decreases S.aureus while increasing P.aeruginosa Signup and view all the answers

Which antibiotic is used to treat MRSA infections?

Vancomycin Signup and view all the answers

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

Reduce estrogen production by preventing aromatase activity Signup and view all the answers

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

They inhibit gene transcription by preventing ER function. Signup and view all the answers

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

Mutations in ESR1 encoding ER-alpha Signup and view all the answers

How does RNA methylation affect treatment resistance in cancer therapy?

It impairs antitumor immunity through aberrant m6A modifier expression. Signup and view all the answers

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

It silences tumor suppressor genes, contributing to resistance. Signup and view all the answers

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

To prevent the emergence of resistance Signup and view all the answers

Which statement best describes the structure of a phylogenetic tree?

Tips represent the actual isolates being studied Signup and view all the answers

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

The proportion of the isolate in the sample 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?

The microorganism must be reisolated and identified as the causative agent Signup and view all the answers

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

Genomic data à bioinformatic analysis à data visualization Signup and view all the answers

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

It induces DNA hypermethylation. Signup and view all the answers

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

They stimulate an antitumor immune response. Signup and view all the answers

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

Staining in ≥1% of tumor cells. Signup and view all the answers

What characterizes HER2 in invasive breast cancer?

It regulates cell growth and is located on chromosome 17. Signup and view all the answers

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

PI3K reactivates ER transcription. Signup and view all the answers

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

It is involved in promoter downregulation. Signup and view all the answers

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

Chemoprevention strategies. Signup and view all the answers

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

They generally have a better prognosis. 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?

Loss of mitotic stimulation dependence. Signup and view all the answers

What is a challenge associated with 2D mammography screening?

It often has a high false negative rate. Signup and view all the answers

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

To predict bacterial resistance to antibiotics Signup and view all the answers

Which factors are used by NGS to assess antibiotic resistance?

Known resistance genes, groups of genes, and mobile genetic elements Signup and view all the answers

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

It provides a clearer picture of resistance dynamics. Signup and view all the answers

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

Potential for gene transfer between bacteria Signup and view all the answers

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

They consist of clusters that can confer resistance together. Signup and view all the answers

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

Higher risk of treatment failures and complications Signup and view all the answers

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

It helps determine suitable treatment options. Signup and view all the answers

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

Infections occurring in patients undergoing medical treatment. Signup and view all the answers

Which statement about opportunistic infections in immunocompromised patients is true?

They can lead to severe complications or fatality. Signup and view all the answers

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

It assists in identifying outbreaks and trends in infections. Signup and view all the answers

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

The increasing incidence of previously treatable infections. Signup and view all the answers

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

Increased difficulty in predicting treatment responses. Signup and view all the answers

How does artificial intelligence (AI) enhance cancer diagnostics?

By increasing the speed and accuracy of analyses. Signup and view all the answers

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

To track the distribution and determinants of health-related events. Signup and view all the answers

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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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.