Related Research Articles
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight.
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. There are usually few symptoms. These may include being taller than average and an increased risk of learning disabilities. The person is generally otherwise normal, including typical rates of fertility.
A toddler is a child approximately 12 to 36 months old, though definitions vary. The toddler years are a time of great cognitive, emotional and social development. The word is derived from "to toddle", which means to walk unsteadily, like a child of this age.
Haemophilia A is a blood clotting disorder caused by a genetic deficiency in clotting factor VIII, thereby resulting in significant susceptibility to bleeding, both internally and externally. This condition occurs almost exclusively is in males born to carrier mothers due to X-linked recessive inheritance. Nevertheless, rare isolated cases do emerge from de novo (spontaneous) mutations.
Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency.
Acute lymphoblastic leukemia (ALL) is a cancer of the lymphoid line of blood cells characterized by the development of large numbers of immature lymphocytes. Symptoms may include feeling tired, pale skin color, fever, easy bleeding or bruising, enlarged lymph nodes, or bone pain. As an acute leukemia, ALL progresses rapidly and is typically fatal within weeks or months if left untreated.
Tonsillitis is inflammation of the tonsils in the upper part of the throat. It can be acute or chronic. Acute tonsillitis typically has a rapid onset. Symptoms may include sore throat, fever, enlargement of the tonsils, trouble swallowing, and enlarged lymph nodes around the neck. Complications include peritonsillar abscess (Quinsy).
Hypernatremia, also spelled hypernatraemia, is a high concentration of sodium in the blood. Early symptoms may include a strong feeling of thirst, weakness, nausea, and loss of appetite. Severe symptoms include confusion, muscle twitching, and bleeding in or around the brain. Normal serum sodium levels are 135–145 mmol/L. Hypernatremia is generally defined as a serum sodium level of more than 145 mmol/L. Severe symptoms typically only occur when levels are above 160 mmol/L.
Mallory–Weiss syndrome or gastro-esophageal laceration syndrome refers to bleeding from a laceration in the mucosa at the junction of the stomach and esophagus. This is usually caused by severe vomiting because of alcoholism or bulimia, but can be caused by any condition which causes violent vomiting and retching such as food poisoning. The syndrome presents with hematemesis. The laceration is sometimes referred to as a Mallory–Weiss tear.
Erythema marginatum is an acquired skin condition which primarily affects the arms, trunk, and legs. It is a type of erythema characterised by bright pink or red circular lesions which have sharply-defined borders and faint central clearning. The lesions typically range between 3-10cm in size, and are distributed symmetrically over the torso and inner surfaces of the limbs and extensor surfaces. The lesions last between one and four weeks but have been known to be present on patients for as long as several months.
Langerhans cell histiocytosis (LCH) is an abnormal clonal proliferation of Langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes.
Leukorrhea or, also known as fluor albus, is a thick, whitish, yellowish or greenish vaginal discharge. It has also been referred to as "the whites". There are many causes of leukorrhea, the usual one being estrogen imbalance. The amount of discharge may increase due to vaginal infection, and it may disappear and reappear from time to time. This discharge can keep occurring for years, in which case it becomes more yellow and strong-smelling. It is usually a non-pathological symptom secondary to inflammatory conditions of the vagina or cervix.
Extended or continuous cycle combined oral contraceptive pills are a packaging of combined oral contraceptive pills (COCPs) that reduce or eliminate the withdrawal bleeding that would occur once every 28 days in traditionally packaged COCPs. It works by reducing the frequency of the pill-free or placebo days. Extended cycle use of COCPs may also be called menstrual suppression, although other hormonal medications or medication delivery systems may also be used to suppress menses. Any brand of combined oral contraceptive pills can be used in an extended or continuous manner by simply discarding the placebo pills; this is most commonly done with monophasic pills in which all of the pills in a package contain the same fixed dosing of a synthetic estrogen and a progestin in each active pill.
An antalgic gait is a gait that develops as a way to avoid pain while walking. It is a form of gait abnormality where the stance phase of gait is abnormally shortened relative to the swing phase. It is a good indication of weight-bearing pain.
Therapeutic endoscopy is the medical term for an endoscopic procedure during which treatment is carried out via the endoscope. This contrasts with diagnostic endoscopy, where the aim of the procedure is purely to visualize a part of the gastrointestinal, respiratory or urinary tract in order to aid diagnosis. In practice, a procedure which starts as a diagnostic endoscopy may become a therapeutic endoscopy depending on the findings, such as in cases of upper gastrointestinal bleeding, or the finding of polyps during colonoscopy.
Basophilic stippling, also known as punctate basophilia, is the presence of numerous basophilic granules that are dispersed through the cytoplasm of erythrocytes in a peripheral blood smear. They can be demonstrated to be RNA. They are composed of aggregates of ribosomes; degenerating mitochondria and siderosomes may be included in the aggregates. In contrast to Pappenheimer bodies, they are negative with Perls' acid ferrocyanide stain for iron. Basophilic stippling is indicative of disturbed erythropoiesis. It can also be found in some normal individuals.
Angelo Mario DiGeorge was an Italian American physician and pediatric endocrinologist from Philadelphia who pioneered the research on the autosomal dominant immunodeficiency now commonly referred to as DiGeorge syndrome.
Glenn procedure is a palliative surgical procedure performed for patients with Tricuspid atresia. It is also part of the surgical treatment path for hypoplastic left heart syndrome. This procedure has been largely replaced by Bidirectional Glenn procedure.
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle (atrophy), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures. Only 12 known human families are described in scientific literature to have SMA-PME.
Brief resolved unexplained event (BRUE), previously apparent life-threatening event (ALTE), is a medical term in pediatrics that describes an event that occurs during infancy. The event is noted by an observer, typically the infant's caregiver. It is characterized by one or more concerning symptoms such as change in skin color, lack of breathing, weakness, or poor responsiveness. By definition, by the time they are assessed in a healthcare environment they must be back to normal without obvious explanation after the clinician takes the appropriate clinical history and physical examination.
References
- ↑ Bonita F. Stanton; Kliegman, Robert; Nelson, Waldo E.; Behrman, Richard E.; Jenson, Hal B. (2007). Nelson textbook of pediatrics Robert M. Kliegman, Richard E. Behrman, Hal B. Jenson, Bonita F. Stanton. Philadelphia: Saunders. ISBN 978-1-4160-2450-7.
- ↑ Walker BR, Ellison ED, Snow BW, Cartwright PC (July 2001). "The natural history of idiopathic urethrorrhagia in boys". The Journal of Urology . 166 (1): 231–2. doi:10.1016/S0022-5347(05)66132-0. PMID 11435875.
- ↑ Domínguez Hinarejos C, Bonillo García MA, Alapont Alacreu JM, Serrano Durbá A, Estornell Moragues F, García Ibarra F (January 2007). "[Assesmment urethrorrhagia in childhood]" (PDF). Actas Urologicas Españolas (in Spanish). 31 (1): 29–32. doi:10.1016/s0210-4806(07)73590-8. PMID 17410983.
 | This medical symptom article is a stub. You can help Wikipedia by expanding it. |