NH Final Review: Clinical Healthcare and Medical Science Flashcards

Comprehensive review flashcards covering healthcare-associated infections, microbiology diagnostics, pathogen genomics, cystic fibrosis management, breast cancer genetics, epilepsy, malaria epidemiology, and HIV/AIDS management.

HCAI (Healthcare Associated Infection)

An infection with onset >48 hours post-admission, featuring signs of infection, with or without risk factor exposure or diagnostic criteria.

Endogenous HAI

A healthcare-associated infection originating from the patient themselves, such as through an endotracheal tube, peripheral venous catheter, or urinary catheter.

Exogenous HAI

A healthcare-associated infection originating from outside the patient, such as from contaminated surfaces, healthcare workers, or other infected/colonized patients.

Outbreak

Two or more linked cases of the same illness where the observed number exceeds the expected number, or a single case caused by a significant disease like diphtheria or viral haemorrhagic fever.

MALDI-TOF

A diagnostic technique that analyzes protein composition to identify organisms; it can only be performed on a pure culture.

Genotypic Resistance

Resistance based on genetic mutations in microorganisms detected by molecular techniques that confer resistance to antimicrobial drugs.

Phenotypic Resistance

Observed when microorganisms survive and grow in the presence of an antibiotic, detected by culture-based methods.

Clinical Metagenomics

The process of sequencing all nucleic acids in a clinical sample to identify microorganisms and their antimicrobial susceptibility without the need for culture.

Possible Case

A case classification meeting clinical criteria but lacking epidemiological or laboratory evidence; characterized by high sensitivity and low specificity.

Confirmed Case

A case that is laboratory confirmed by clinical criteria; characterized by high specificity and lower sensitivity.

Whole Genome Sequencing (WGS)

The process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time.

OneHealth

The concept that the health of people is connected to the health of animals and our shared environment.

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)

A membrane protein and chloride channel, member of the ATP binding cassette (ABC) transporter superfamily, located at the apical membrane of polarized epithelial cells.

Silent Mutation

A mutation where the amino acid does not change, making it unlikely to be disease-causing.

Missense Mutation

A substitution mutation that causes an amino acid change, which could alter the protein's function.

Nonsense Mutation

A mutation that causes a premature stop codon ($TGA$) in the amino acid sequence.

Potentiator

A drug designed to improve CFTR function at the cell surface, such as Ivacaftor which binds to the protein to open the channel for $Cl^-$ ions.

Corrector

A drug that improves CFTR protein folding and trafficking within the cell, such as Lumacaftor or Tezacaftor.

Trifakta (ETI)

A combination therapy for CF consisting of Tezacaftor (Corrector), Elexacaftor (Corrector), and Ivacaftor (Potentiator).

FEV1

A key predictor of mortality in Cystic Fibrosis patients regarding lung function.

BRCA1 and BRCA2

Tumour suppressor genes involved in DNA repair; mutations in these are common germline markers for hereditary breast and ovarian cancer risk.

SERMs (Selective Oestrogen Receptor Modulators)

Drugs like tamoxifen and raloxifene that inhibit the binding of oestrogen to the oestrogen receptor (ER).

Aromatase Inhibitors (AI)

Medications that reduce oestrogen production, such as Anastrozole, exemestane, and letrozole.

Triple Negative Breast Cancer (TNBC)

A breast cancer subtype lacking oestrogen receptors, progesterone receptors, and HER2 amplification, commonly associated with $P53$ mutations.

FASTA

A text-based bioinformatics format representing nucleotide or peptide sequences using single-letter codes, starting with a > symbol identifier.

FASTQ

A text-based bioinformatics format containing sequencing data (e.g., from Illumina) including base call sequences and quality scores.

Ki-67

A marker of proliferation detected by IHC; higher levels indicate more aggressive cancer behavior.

FISH (Fluorescence In Situ Hybridization)

A cytogenetic technique used to identify gene amplifications, such as HER2/neu, by calculating the ratio of red (HER2) signals to green (CEP17) signals; a ratio > $2.0$ indicates amplification.

Oncotype Dx

A genomic test assessing the activity of $21$ genes to predict recurrence risk and chemotherapy benefit in ER+, HER2- breast cancer.

Focal Seizure

A seizure originating in one part of the brain, classified as Focal Aware, Focal Impaired Awareness (FIA), or Focal with progression to tonic-clonic.

Status Epilepticus

An emergency condition where epileptic activity lasts > $5$ minutes.

G-Banded Karyotyping

A genome-wide test that determines the number and banding pattern of chromosomes using Giemsa staining to detect aneuploidy, translocations, and large CNVs.

Plasmodium Falciparum

The deadliest species of malaria parasite, causing the majority of cases in Sub-Saharan Africa and capable of high-grade parasitaemia.

Sickle Cell Trait (SCT)

A heterozygous genetic condition ($HbAS$) that provides protection against malaria by impairing parasite growth.

G6PD Deficiency

An RBC enzyme deficiency that provides structural protection against malaria but contraindicates the use of certain drugs like Primaquine.

Artemisinin Combination Therapy (ACT)

The first-line oral treatment for uncomplicated malaria, such as Artemether/lumefantrine.

Vertical Transmission

Transmission of an infection from mother to child during pregnancy, labor, delivery, or breastfeeding.

Opportunistic Infection (OI)

An infection that occurs more frequently or is more severe in people with weakened immune systems, such as those with HIV and low CD4 counts.

IRIS (Immune Reconstitution Inflammatory Syndrome)

An inflammatory response against pre-existing opportunistic infections that occurs after starting ART in patients with advanced HIV.

PrEP (Pre-Exposure Prophylaxis)

A daily or event-based medication (Emtricitabine + Tenofovir) taken by HIV-negative people at risk to prevent infection.