Molecular infectious
Molecular infectivology allows the identification of organism-specific DNA or RNA sequences. Due to its high sensitivity and specificity, it is currently the method of choice for detecting all categories of microbes, making it possible to monitor the efficacy of specific antimicrobial therapy and avoid taking potentially inappropriate drugs.
Chlamydia trachomatis
Chlamydia trachomatis is the primary aetiological agent of sexually transmitted diseases, including non-gonococcal urethritis (NGU), post-gonococcal urethritis (inclusion blennorrhea), epididymitis, vaginitis and acute urethral syndrome. In women, it can cause pelvic inflammatory disease (PID), which often leads to infertility in couples. Additionally, it is the pathogen responsible for venereal lymphogranuloma, trachoma (which can lead to blindness), inclusion conjunctivitis, and pneumonia in infants infected during passage through the cervical canal during childbirth.
Ureaplasma urealyticum; Ureaplasma parvum; Mycoplasma genitalium; Neisseria gonorrhoeae; Trichomonas vaginalis; Gardnerella vaginalis; Candida albicans
Sexually Transmitted Infections (STIs) represent a large group of infectious diseases spread throughout the world. To date, approximately thirty clinical presentations of sexually transmitted diseases caused by 20 different pathogens, including bacteria, viruses, protozoa and ectoparasites, have been identified. Many infections are often asymptomatic and, if not diagnosed promptly and treated properly, can lead to serious complications in the female and male reproductive systems, including infertility, miscarriages, congenital infections, urethral stenosis and oncogenic transformations. In these pathogenetic contexts, the use of molecular diagnostics is crucial, as conventional analytical techniques, where applicable, are often neither specific nor accurate.
HPV screening and HPV typing
HPV (Human Papillomavirus) infection, the most common sexually transmitted infection, frequently affects both women and men and can be a pathogenic cause of genital and extragenital cancers, including those of the oral cavity, pharynx and larynx. In women, HPV infection is very prevalent up to the age of 25, and it spontaneously regresses in 80% of cases. If HPV infection persists beyond the age of 30, it can lead to precancerous lesions on the cervix, which may progress to cervical cancer, depending on the viral genotype.
Therefore, prevention is crucial.
Unlike the Pap smear test, which detects lesions caused by the virus, the molecular biology test for HPV using vaginal, cervical or urethral swabs can identify the presence of the virus and perform genotyping to determine if it belongs to high-risk oncogenic strains. This test is useful for monitoring the regression of the infection and preventing the transmission of the virus to partners, even in the absence of visible lesions.
The HPV viral DNA test can detect both transient and persistent infections, the latter of which carries a higher risk of integrating the viral genome at the cellular level and progressing to cervical cancer.
In cases of persistent infection, the recently introduced HPV RNA test can ascertain whether the viral genome is integrated at the cellular level and genotype the virus to determine if it belongs to one of the high-risk HPV genotypes. It is important to note that genotypes 16 and 18 are responsible for approximately 70% of cervical cancers.
High-risk detectable HPV genotypes: 16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59, 68
medium-low risk: 6, 11, 26, 40, 42, 43, 44, 53, 54, 61, 62, 66, 67, 69, 70, 71, 72, 74, 81, 82, 83, 91
Hepatitis C: Qualitative HCV virus; Quantitative HCV; HCV typing
Hepatitis C is a disease of viral aetiology caused by the homonymous virus transmitted mainly through infected blood, rarely with sexual intercourse or during childbirth. Compared to hepatitis caused by viruses A, B, D, E, and G, hepatitis C virus (HCV) infection evolves, in most cases, into chronic hepatitis and sometimes into liver cirrhosis and cancer. HCV infection is often asymptomatic for a long period, leading to many patients being unaware that they are infected.
This lack of awareness hinders the treatment of the disease, as treatment is more effective when administered in the early stages.
Hepatitis B Virus (HBV) – Quantitative analysis; Qualitative analysis
Hepatitis B virus (HBV) is transmitted mainly through blood and its derivatives. However, infection by sexual, oral and perinatal means is also possible. After experiencing general malaise, including loss of appetite, vomiting and abdominal discomfort, approximately 10–20% of patients develop symptoms such as fever, rash and rheumatic joint and muscle problems. After 2–14 days jaundice develops, which may be accompanied by itching. In about 1% of all infected patients, fulminant hepatitis occurs, often resulting in a fatal outcome. 5–10% of patients develop chronic liver inflammation, which may result in liver cirrhosis or primary hepatocellular carcinoma.
Helicobacter pylori DNA detection
Helicobacter pylori is a gram-negative bacillus that inhabits the mucus lining of the gastric mucosa. It is highly motile due to its multiple flagella. H. pylori is closely associated with antral gastritis, gastric and duodenal ulcers in adults and children, as well as gastric lymphoma and gastric adenocarcinoma. Its presence in the gastric mucosa often leads to iron deficiency anaemia.
Several non-invasive diagnostic methods are available, which can be performed on serum or stool samples, or on exhaled air after the oral intake of urea and citric acid. These are indirect methods for detecting the bacterium, most of which have low specificity and sensitivity.
In contrast, molecular biology testing represents an advancement in laboratory diagnostics, as it directly detects the DNA of the bacterium in faeces. This method offers very high sensitivity and specificity.
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