Bart-Pumphrey syndrome is a rare genetic condition that causes a variety of symptoms, including leuconychia (white nails), palmoplantar keratoderma (thickened skin on the palms of the hands and soles of the feet), and hearing loss. The syndrome is associated with…
The SLC9A6 gene, also known as the sodiumhydrogen exchangers related to Christianson (NHE-RF), plays a crucial role in the recycling and changes of sodium and hydrogen ions in cells. Mutations in this gene are associated with a rare genetic condition…
The SIX5 gene is a gene known to be associated with various conditions and disorders. It belongs to the branchiootorenal (BOR) syndrome, a genetic disorder characterized by several congenital anomalies. Named for its discovery on chromosome 19, this gene disrupts…
Pulse oximetry is a quick and non-invasive method used to measure the oxygen levels in a person’s blood. It is a vital part of medical practice, especially in cases where oxygen levels can be a matter of life and death.…
The calcium in urine test is a simple and painless way to measure the amount of calcium in your body. Calcium is an essential mineral that plays a vital role in the health of your bones and muscles. It is…
Swallowing problems, also known as dysphagia, can occur for different reasons. If you’re experiencing difficulty in swallowing, it’s important to see a doctor for evaluation. There are several tests that can help diagnose the cause of your symptoms and provide…
The follicle-stimulating hormone (FSH) levels test is usually done to measure the amount of FSH in a woman’s blood. FSH is a reproductive hormone that plays a key role in the development of the ovaries and the production of eggs.…
Gastric emptying tests are diagnostic procedures used to evaluate the function of the gastrointestinal tract. They involve the use of various tests and imaging techniques to determine how quickly food and other substances pass through the stomach and into the…
During pregnancy, many women experience various physical discomforts and changes in their bodies. One common issue that some pregnant women may face is coughing. Coughing during pregnancy can be caused by a number of factors, including hormonal changes, allergies, respiratory…
CDKL5 deficiency disorder is a rare genetic disorder associated with severe neurodevelopmental disability. It is characterized by early-onset epilepsy, developmental delay, intellectual disability, and hand stereotypies. The disorder is caused by variants in the CDKL5 gene located on the X…