Differential diagnosis allows for decisions on what further investigations are needed in each case.There are many types of investigations in diagnosis of oral and maxillofacial diseases, including screening tests, imaging (radiographs, CBCT, CT, MRI, ultrasound) and histopathology (biopsy). Biopsy
A biopsy is indicated when the patients clinical presentation, past history or imaging studies do not allow a definitive diagnosis. A biopsy is a surgical procedure that involves the removal of a piece of tissue sample from the living organism for the purpose of microscopic examination. In most cases, biopsies are carried out under local anaesthesia. Some biopsies are carried out endoscopically, others under image guidance, for instance ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI) in the radiology suite. Examples of the most common tissues examined by means of a biopsy include oral and sinus mucosa, bone, soft tissue, skin and lymph nodes.Types of biopsies typically used for diagnosing oral and maxillofacial pathology are:
Excisional biopsy:  A small lesion is totally excised. This method is preferred, if the lesions are approximately 1 cm or less in diameter, clinically and seemingly benign and surgically accessible. Large lesions which are more diffused and dispersed in nature or those which are seemed to be more clinically malignant are not conducive to total removal.Incisional biopsy: A small portion of the tissue is removed from an abnormal-looking area for examination. This method is useful in dealing with large lesions. If the abnormal region is easily accessed, the sample may be taken at your doctors office.
Interactions
When combined with intravenous agalsidase alfa or beta, which are recombinant versions of the enzyme α-GalA, migalastat increases tissue concentrations of functional α-GalA compared to agalsidase given alone up to fivefold.Migalastat is not intended to be combined with agalsidase.Migalastat does not inhibit or induce cytochrome P450 liver enzymes or transporter proteins and is therefore expected to have a low potential for interactions with other drugs. Pharmacology
Mechanism of action
Fabry disease is a genetic disorder caused by various mutations of the enzyme α-GalA, which is responsible for breaking down the sphingolipid globotriaosylceramide (Gb3), among other glycolipids and glycoproteins. Some of these mutations result in misfolding of α-GalA, which subsequently fails protein quality control in the endoplasmic reticulum and is decomposed. Lack of functional α-GalA leads to accumulation of Gb3 in blood vessels and other tissues, with a wide range of symptoms including kidney, heart, and skin problems.Migalastat is a potent, orally available inhibitor of α-GalA (IC50: 4 μM). When binding to faulty α-GalA, it shifts the folding behaviour towards the proper conformation, resulting in a functional enzyme provided the mutation is amenable. Molecules with this type of mechanism are called pharmacological chaperones.When the enzyme reaches its destination, the lysosome, migalastat dissociates because of the low pH and the relative abundance of Gb3 and other substrates, leaving α-GalA free to fulfill its function. Depending on the mutation, the EC50 is between 0.8 μM and over 1 mM in cellular models.