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Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent, potentially lethal, monogenic human disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. It is also the most common of the inherited cystic kidney diseases — a group of disorders with related but distinct pathogenesis, characterized by the development of renal cysts and various extrarenal manifestations, which in case of ADPKD include cysts in other organs, such as the liver, seminal vesicles, pancreas, and arachnoid membrane, as well as other abnormalities, such as intracranial aneurysms and dolichoectasias, aortic root dilatation and aneurysms, mitral valve prolapse, and abdominal wall hernias. Over 50% of patients with ADPKD eventually develop end stage kidney disease and require dialysis or kidney transplantation. ADPKD is estimated to affect at least one in every 1000 individuals worldwide, making this disease the most common inherited kidney disorder with a diagnosed prevalence of 1:2000 and incidence of 1:3000-1:8000 in a global scale.
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms.
Echinococcosis is a parasitic disease of tapeworms of the Echinococcus type. The two main types of the disease are cystic echinococcosis and alveolar echinococcosis. Less common forms include polycystic echinococcosis and unicystic echinococcosis. The disease often starts without symptoms and this may last for years. The symptoms and signs that occur depend on the cyst's location and size. Alveolar disease usually begins in the liver but can spread to other parts of the body, such as the lungs or brain. When the liver is affected the person may have abdominal pain, weight loss, and turn slightly yellow from jaundice. Lung disease may cause pain in the chest, shortness of breath and coughing.
Angioplasty, also known as balloon angioplasty and percutaneous transluminal angioplasty (PTA), is a minimally invasive endovascular procedure used to widen narrowed or obstructed arteries or veins, typically to treat arterial atherosclerosis. A deflated balloon attached to a catheter is passed over a guide-wire into the narrowed vessel and then inflated to a fixed size. The balloon forces expansion of the blood vessel and the surrounding muscular wall, allowing an improved blood flow. A stent may be inserted at the time of ballooning to ensure the vessel remains open, and the balloon is then deflated and withdrawn. Angioplasty has come to include all manner of vascular interventions that are typically performed percutaneously.
Trigger finger, also known as stenosing tenosynovitis, is a disorder characterized by catching or locking of the involved finger. Pain may occur in the palm of the hand or knuckles. The name is due to the popping sound made by the affected finger when moved. Most commonly the ring finger or thumb is affected.
Lumbar puncture (LP), also known as a spinal tap, is a medical procedure in which a needle is inserted into the spinal canal, most commonly to collect cerebrospinal fluid (CSF) for diagnostic testing. The main reason for a lumbar puncture is to help diagnose diseases of the central nervous system, including the brain and spine. Examples of these conditions include meningitis and subarachnoid hemorrhage. It may also be used therapeutically in some conditions. Increased intracranial pressure is a contraindication, due to risk of brain matter being compressed and pushed toward the spine. Sometimes, lumbar puncture cannot be performed safely. It is regarded as a safe procedure, but post-dural-puncture headache is a common side effect.
Dupuytren's contracture is a condition in which one or more fingers become permanently bent in a flexed position. It usually begins as small, hard nodules just under the skin of the palm, then worsens over time until the fingers can no longer be straightened. While typically not painful, some aching or itching may be present. The ring finger followed by the little and middle fingers are most commonly affected. The condition can interfere with preparing food, writing, and other activities.
Molar pregnancy is an abnormal form of pregnancy in which a non-viable fertilized egg implants in the uterus and will fail to come to term. A molar pregnancy is a gestational trophoblastic disease which grows into a mass in the uterus that has swollen chorionic villi. These villi grow in clusters that resemble grapes. A molar pregnancy can develop when a fertilized egg does not contain an original maternal nucleus. The products of conception may or may not contain fetal tissue. It is characterized by the presence of a hydatidiform mole. Molar pregnancies are categorized as partial moles or complete moles, with the word mole being used to denote simply a clump of growing tissue, or a growth.
Minimally invasive procedures encompass surgical techniques that limit the size of incisions needed and so lessen wound healing time, associated pain and risk of infection. Surgery by definition is invasive and many operations requiring incisions of some size are referred to as open surgery, in which incisions made can sometimes leave large wounds that are painful and take a long time to heal. Minimally invasive procedures have been enabled by the advance of various medical technologies. An endovascular aneurysm repair as an example of minimally invasive surgery is much less invasive in that it involves much smaller incisions than the corresponding open surgery procedure of open aortic surgery. This minimally invasive surgery became the most common method of repairing abdominal aortic aneurysms in 2003 in the United States.
Echinococcus is a genus within cestoda, a parasitic class of the platyhelminthes phylum. Human echinococcosis is an infectious disease caused by the following species: E. granulosus, E. multilocularis, or E. vogeli.
Echinococcus granulosus, also called the hydatid worm, hyper tape-worm or dog tapeworm, is a cyclophyllid cestode that dwells in the small intestine of canids as an adult, but which has important intermediate hosts such as livestock and humans, where it causes cystic echinococcosis, also known as hydatid disease. The adult tapeworm ranges in length from 3 mm to 6 mm and has three proglottids ("segments") when intact—an immature proglottid, mature proglottid and a gravid proglottid. The average number of eggs per gravid proglottid is 823. Like all cyclophyllideans, E. granulosus has four suckers on its scolex ("head"), and E. granulosus also has a rostellum with hooks. Several strains of E. granulosus have been identified, and all but two are noted to be infective in humans.
Echinococcus multilocularis is a small cyclophyllid tapeworm found extensively in the northern hemisphere. E. multilocularis, along with other members of the Echinococcus genus, produce diseases known as echinococcosis. Unlike E. granulosus,E. multilocularis produces many small cysts that spread throughout the internal organs of the infected animal. The resultant disease is called Alveolar echinococcosis, and is caused by ingesting the eggs of E. multilocularis.
Percutaneous coronary intervention (PCI) is a non-surgical procedure used to treat narrowing of the coronary arteries of the heart found in coronary artery disease. The process involves combining coronary angioplasty with stenting, which is the insertion of a permanent wire-meshed tube that is either drug eluting (DES) or composed of bare metal (BMS). The stent delivery balloon from the angioplasty catheter is inflated with media to force contact between the struts of the stent and the vessel wall, thus widening the blood vessel diameter. After accessing the blood stream through the femoral or radial artery, the procedure uses coronary catheterization to visualise the blood vessels on X-ray imaging. After this, an interventional cardiologist can perform a coronary angioplasty, using a balloon catheter in which a deflated balloon is advanced into the obstructed artery and inflated to relieve the narrowing; certain devices such as stents can be deployed to keep the blood vessel open. Various other procedures can also be performed.
Percutaneous transhepatic cholangiography or percutaneous hepatic cholangiogram is a radiological technique used to visualize the anatomy of the biliary tract. A contrast medium is injected into a bile duct in the liver, after which X-rays are taken. It allows access to the biliary tree in cases where endoscopic retrograde cholangiopancreatography (ERCP) has been unsuccessful. Initially reported in 1937, the procedure became popular in 1952.
Transvaginal oocyte retrieval (TVOR), also referred to as oocyte retrieval (OCR), is a technique used in in vitro fertilization (IVF) in order to remove oocytes from the ovary of a woman, enabling fertilization outside the body. Transvaginal oocyte retrieval is more properly referred to as transvaginal ovum retrieval when the oocytes have matured into ova, as is normally the case in IVF.
Thyroid nodules are nodules which commonly arise within an otherwise normal thyroid gland. They may be hyperplastic or tumorous, but only a small percentage of thyroid tumors are malignant. Small, asymptomatic nodules are common, and often go unnoticed. Nodules that grow larger or produce symptoms may eventually need medical care. A goitre may have one nodule – uninodular, multiple nodules – multinodular, or be diffuse.
A bone cyst or geode is a cyst that forms in bone.
The Casoni test is an immediate hypersensitivity skin test used in the diagnosis of hydatid disease introduced by casoni. The test involves the intradermal injection of 0.25 ml of sterilised fluid from hydatid cysts/human cyst and sterilised by Seitz filtration on forearm and equal volume of saline injected on the other forearm. Observations made for next 30 mins and after 1 to 2 days. A wheal response occurring at the injection site within 20 minutes is considered positive. (Immediate hypersensitivity). Delayed hypersensitivity reaction usually read after 18-24 hours. The test is positive in about 90% of cases of hydatid disease affecting the liver, but positive in less than 50% of patients with hydatid disease elsewhere in the body; false positive results are also common. Precaution – Being a type I hypersensitivity reaction, anaphylactic reaction tray must be kept ready before carrying out the test.Consequently, serological tests are now generally used.
A breast biopsy is usually done after a suspicious lesion is discovered on either Mammography or Ultrasound in order to get tissue for pathological diagnosis. Several methods for a breast biopsy now exist. The most appropriate method of biopsy for a patient depends upon a variety of factors, including the size, location, appearance and characteristics of the abnormality. The different types of breast biopsies include fine needle aspiration (FNA), vacuum assisted biopsy, core needle biopsy, and surgical excision biopsy. Breast biopsies can be done under ultrasound, MRI or a Stereotactic biopsy technique. Vacuum assisted biopsies are typically done using stereotactic techniques when the suspicious lesion can only be seen on mammography. On average, 5-10 biopsies of a suspicious breast lesion will lead to the diagnosis of one case of breast cancer.
Echinococcus vogeli is a small cyclophyllid tapeworm found in Central and South America. E. vogeli, as well as other members of the genus Echinococcus, produce a disease called echinococcosis. Echinococcosis, also known has hydatidosis, is a result of ingesting the eggs of the genus Echinococcus. E. vogeli is similar to E. multilocularis in that both species produces many small cysts that spread throughout the internal organs of the infected animal. The ingestion of E. vogeli eggs, and the spreading of the cysts through infected host, will results in Polycystic Echinococcosis.
References
- ↑ Smego, Raymond A.; Bhatti, Sabha; Khaliq, Amir A.; Beg, M. Asim (2003-10-15). "Percutaneous Aspiration-Injection-Reaspiration Drainage Plus Albendazole or Mebendazole for Hepatic Cystic Echinococcosis: A Meta-analysis". Clinical Infectious Diseases. 37 (8): 1073–1083. doi: 10.1086/378275 . ISSN 1058-4838. PMID 14523772.
- ↑ Filice, C; Pirola, F; Brunetti, E; Dughetti, S; Strosselli, M; Foglieni, CS (May 1990). "A new therapeutic approach for hydatid liver cysts. Aspiration and alcohol injection under sonographic guidance". Gastroenterology. 98 (5 Pt 1): 1366–8. doi:10.1016/0016-5085(90)90358-8. PMID 2182372.
- ↑ Brunetti, E; Kern, P; Vuitton, DA; Writing Panel for the, WHO-IWGE (Apr 2010). "Expert consensus for the diagnosis and treatment of cystic and alveolar echinococcosis in humans". Acta Tropica. 114 (1): 1–16. doi: 10.1016/j.actatropica.2009.11.001 . PMID 19931502.
- ↑ Golemanov, B.; Grigorov, N.; Mitova, R.; Genov, J.; Vuchev, D.; Tamarozzi, F.; Brunetti, E. (6 January 2011). "Efficacy and Safety of PAIR for Cystic Echinococcosis: Experience on a Large Series of Patients from Bulgaria". American Journal of Tropical Medicine and Hygiene. 84 (1): 48–51. doi:10.4269/ajtmh.2011.10-0312. PMC 3005516 . PMID 21212200.