The nose is composed of an observable exterior segment (external nose) and an internal segment within the skull known as the nasal cavity (internal nose). The external nose, visible on the face, consists of a framework of bone and hyaline cartilage enveloped in skin and muscle and lined with a mucous membrane. This structure is supported by the frontal bone, nasal bones, and maxillary bone and is supplemented by a cartilaginous framework comprising the septal nasal cartilage, lateral nasal...

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

The upper respiratory tract plays a vital role in the respiratory system, comprising several structures that facilitate air intake and prepare air for the lungs. It also serves as the first line of defense against pathogens and particles. This tract includes the nose and nasal cavity, the oral cavity, the paranasal sinuses, and the pharynx, each with specific functions and features.
Nose and nasal cavity
The nose and nasal cavity represent the main external openings of the respiratory tract....

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...