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PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene. ... Gene alterations (mutations) in the PAH gene cause PKU.
The peroneal artery is closely positioned to the fibula. The artery arises from the tibioperoneal trunk, distal to the takeoff of the anterior tibial artery (seen in the illustration below perforating the interosseous membrane). The peroneal artery sends perforators laterally to the skin of the lower leg, sometimes in a septocutaneous fashion via the lateral intermuscular septum, but often with muscular perforators. The length of the pedicle is usually short, but can be increased substantially by dissecting the peroneal artery and its venae from the fibula and using the distal bone for reconstruction.
giant systolic pulsations, known as C-V waves, were noticeable during jugular venous examination of a 33-year-old woman who had tricuspid-valve endocarditis. In video 2, transthoracic echocardiography revealed severe tricuspid regurgitation.
During the examination, the doctor gently puts a lubricated, gloved finger of one hand into the rectum. He or she may use the other hand to press on the lower belly or pelvic area. A digital rectal exam is done for men as part of a complete physical examination to check the prostate gland .
Multiple endocrine neoplasia type 2 (MEN2) is a hereditary condition associated with three primary types of tumors: medullary thyroid cancer, parathyroid tumors, and pheochromocytoma. MEN2 is classified into three subtypes based on clinical features. MEN2A, which affects 60% to 90% of MEN2 families Medullary thyroid cancer: 98% to 100% with MEN2A are affected Pheochromocytoma, a typically benign (noncancerous) tumor of the adrenal glands: 50% with MEN2A affected Parathyroid adenoma (benign tumor) or hyperplasia, meaning increased size, of the parathyroid gland: 5% to 10% with MEN2A affected MEN2B, which affects 5% of MEN2 families Medullary thyroid cancer: 98% to 100% with MEN2B affected Pheochromocytoma: 50% with MEN2B affected Mucosal neuromas, which is a benign tumor of nerve tissue on the tongue, lips and throughout the gastrointestinal tract: 95% to 98% affected Digestive problems caused by disordered nerves in the gastrointestinal tract: 75% to 90% affected Muscle, joint, and spinal problems: 95% affected Typical facial features, including swollen lips and thick eyelids: 75% to 90% affected Familial medullary thyroid cancer (FMTC), which affects 5% to 35% of MEN2 families Medullary thyroid carcinoma only Sources: Gagel RF, Marx SJ. “Multiple endocrine neoplasia.” Williams Textbook of Endocrinology, Chapter 40, 11th ed., Philadelphia, 2008, and Eng C, Clayton D, et al. Grubbs EG, Gagel RF. My, How Things Have Changed in Multiple Endocrine Neoplasia Type 2A! J Clin Endocrinol Metab 100(7):2532-5, 7/2015. PMID: 26151398. What causes MEN2? MEN2 is a genetic condition. This means that the cancer risk and other features of MEN2 can be passed from generation to generation in a family. The gene associated with MEN2 is called RET. A mutation (alteration) in the RET gene gives a person an increased risk of developing medullary thyroid cancer and other tumors associated with MEN2.
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If you have multiple sclerosis (MS), you probably had several tests done before you received your diagnosis. There isn’t one test to diagnosis MS, so testing can vary. Doctors can use neurological exams, information about previous symptoms, blood tests, and spinal fluid tests. A magnetic resonance imaging (MRI) scan isn’t used to diagnose MS but rather to rule out other diseases. A diagnosis of MS requires more information than what a scan alone can give. By looking at more than one test or exam result, doctors can get a clearer picture of what’s going on in your body.
Alcohol not broken down by the liver goes to the rest of the body, including the brain. Alcohol can affect parts of the brain that control movement, speech, judgment, and memory. These effects lead to the familiar signs of drunkenness: difficulty walking, slurred speech, memory lapses, and impulsive behavior.
Definition. The principal signs of cerebellar dysfunction are the following: Ataxia: unsteadiness or incoordination of limbs, posture, and gait. A disorder of the control of force and timing of movements leading to abnormalities of speed, range, rhythm, starting, and stopping.
The symptoms of bacterial overgrowth include nausea, flatus, constipation, bloating, abdominal distension, abdominal pain or discomfort, diarrhea, fatigue, and weakness. SIBO also causes an increased permeability of the small intestine. Some patients may lose weight.
Dilation and curettage (D&C) is a procedure to remove tissue from inside your uterus. Doctors perform dilation and curettage to diagnose and treat certain uterine conditions — such as heavy bleeding — or to clear the uterine lining after a miscarriage or abortion.
أ.د/ سمير عبد الغفار في برنامج الصحة و الجمال يتحدث عن الطرق العلاجية المختلفة لعلاج الأورام الليفية في الرحم و خاصة بالطرق التي تتفادى استئصال الرحم.
أ.د/ سمير عبد الغفار هو استشاري العمليات التداخلية بدون جراحة في كلية الطب بجامعة عين شمس
للمزيد من المعلومات عن الأورام الليفية في الرحم:
http://www.Fibroidstoday.com
Associate Professor Dr. Samir Abd Elghaffar spekaing in the famous TV show "Health and Beauty" discussing various non invasive techniques of curing fibroids and leiomyomas stressing on the interventional radiology techniques.
Dr. Samir Abd Elghaffar is the consultant of interventional radiology and non invasive procedures in Ain Shams Faculty of medicine.
Soft tissue biopsy from osteolytic lesions is a challenge for the interventionist. The Spirotome Bone is conceived for this intervention. The procedure is straigthforward and produces tissue specimens of high quality in sufficient amounts to allow quantitative molecular biology.