Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (velopharyngeal insufficiency), learning disabilities, mild differences in facial features, and recurrent infections. Infections are common in children due to problems with the immune systems T cell-mediated response that in some patients is due to an absent or hypoplastic thymus. DiGeorge syndrome may be first spotted when an affected newborn has heart defects or convulsions from hypocalcemia due to malfunctioning parathyroid glands and low levels of parathyroid hormone (parathormone).Affected individuals may also have other kinds of birth defects including kidney abnormalities and significant feeding difficulties as babies. Gastrointestinal issues are also very common in this patient population. Digestive motility issues may result in constipation. Disorders such as hypothyroidism and hypoparathyroidism or thrombocytopenia (low platelet levels), and psychiatric illnesses are common late-occurring features.Microdeletions in chromosomal region 22q11.2 are associated with a 20 to 30-fold increased risk of schizophrenia. Studies provide various rates of 22q11.2DS in schizophrenia, ranging from 0.5 to 2.0% and averaging about 1.0%, compared with the overall estimated 0.025% risk of the 22q11.2DS in the general population.Salient features can be summarized using the mnemonic CATCH-22 to describe 22q11.2DS, with the 22 signifying the chromosomal abnormality is found on the 22nd chromosome, as below:
Cardiac abnormality (commonly interrupted aortic arch, truncus arteriosus and tetralogy of Fallot)
Abnormal facies
Thymic aplasia or hypoplasia
Cleft palate
Hypocalcemia/hypoparathyroidism early in lifeIndividuals can have many possible features, ranging in number of associated features and from the mild to the very serious.
Tirbanibulin, sold under the brand name Klisyri, is a medication for the treatment of actinic keratosis (AKs) on the face or scalp.The most common side effects include local skin reactions, application site pruritus, and application site pain.Tirbanibulin was approved for medical use in the United States in December 2020, and in the European Union in July 2021. The U.S. Food and Drug Administration (FDA) considers it to be a first-in-class medication.It functions as a mitotic inhibitor by inhibiting tubulin polymerization and Src kinase signaling can be potentially effective in deferring the development of AKs to squamous cell carcinoma in situ. Medical uses
Tirbanibulin is indicated for the topical treatment of actinic keratosis of the face or scalp. Mechanism of Action
Tirbanibulin, chemically known as N-benzyl-2-(5-(4-(2-morpholinoethoxy)phenyl) pyridine-2-yl) acetamide, is a microtubule and non–ATP-competitive inhibitor. The drug in various ways mimics the mechanisms of chemotherapy by suspending the protooncogenic Src tyrosine kinase signaling pathway. Notably, it promotes G2/M arrest during cell cycle, upregulates p53, and triggers apoptosis via caspase-3 stimulation and poly (ADP-ribose) polymerase cleavage. Side effects
In several studies tirbanibulin has been observed to induce skin reactions at the site of application, ranging from mild to severe erythema, flaking, ulceration, and pain.As of now, there has been no extensive research conducted on the risks of tirbanibulin usage by specific human populations (i.e., pregnant populations). There also has been no significant differences observed in safety or effectiveness of the drug between geriatric or pediatric populations.