Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid.

Recto-vaginal medical examination

A fracture of the scaphoid, though a relatively frequent wrist injury, is often ignored, overlooked, or mistakenly attributed to a wrist sprain. This is due in large part to the subtlety of its symptoms. Unlike most other broken bones, the area around the scaphoid may not be noticeably swollen or intensely painful. According to HSS Hand Specialist Scott Wolfe, MD, “because of the scaphoid fracture’s relatively innocuous symptoms, it may be mistaken for a sprain and remain undiagnosed for months or years, leading to long-term consequences of painful arthritis.” A scaphoid fracture is usually caused by a fall on the outstretched hand, and it occurs most often in young, active patients. Frequently, the injury occurs in sporting events such as skiing or snowboarding, although it can also occur as a result of a motor vehicle accident or similar traumatic force on the hand and wrist. Dr. Wolfe notes that extra vigilance should be paid to every wrist injury, since the fleeting symptoms of a scaphoid fracture - in addition to its complicated shape and precarious blood supply - can lead to a failure of the two fractured bone ends to unite (also called a nonunion).

Alcoholic liver disease is a term that encompasses the liver manifestations of alcohol overconsumption, including fatty liver, alcoholic hepatitis, and chronic hepatitis with liver fibrosis or cirrhosis. It is the major cause of liver disease in Western countries.

Developmental Psychology Documentary on Brain and Intelligence Development in Babies SHOW MORE

Deuk Laser Disc Repair vs Traditional Spinal Fusion Comparison, Laser versus Fusion

A new video illustrating the horizontal breast exam technique whihc is performed by doctors for any breast masses or abnormalities.

Dr. Thomas Haas, MD, Board Certified plastic surgeon, performed breast augmentation on his patient in November, 2007. The surgery was performed in his JCAHO accredited in-office Surgery Suite (Imaage) located in Louisville, Kentucky. With so many women interested in this surgery, this video can answer many of their questions. Dr. Haas specializes in cosmetic and aesthetic surgery and has been in practice over 15 years

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. In a dilation and curettage — sometimes spelled "dilatation" and curettage — your doctor uses small instruments or a medication to open (dilate) your cervix — the lower, narrow part of your uterus. Your doctor then uses a surgical instrument called a curette to remove uterine tissue. Curettes used in a D&C can be sharp or use suction

An example of a technique I use in my surgical practice

A video discussing the Liver Cancer Treatment with Radiofrequency Ablation

There are 3 genetic types of FHH based on chromosome location. FHH type 1 accounts for 65% of cases and is due to inactivating mutations in the CASR gene, localized to 3q21.1. This gene encodes the calcium-sensing receptor (CaSR). Loss of CaSR function results in a reduction in the sensitivity of parathyroid and renal cells to calcium levels so hypercalcemia is perceived as normal. The other 35% have either a mutation GNA11 (19p13.3) seen in FHH type 2 or AP2S1 (19q13.2-q13.3) seen in FHH type 3 (see these terms) or in genes not yet discovered. FHH is rarely caused by auto-antibodies against CaSR in those without a mutation.

Understand the adrenal gland with a focus on the adrenal cortex with this clear explanation .

Lupus Treatment | Causes Of Lupus Flares

10 Biggest Babies Ever Born

Occupational respiratory disease is any lung condition you get at work. Certain workplaces lend themselves to disease. The most common are coalmines and factories or areas with high amounts of toxins. These include asbestos and silica dust, as well as smoke, fumes, gases, and other particles. Types of occupational respiratory disease include: coal workers’ pneumoconiosis, also known as Black Lung Disease asbestosis silicosis farmers’ lung, also known as allergic alveolitis. It also includes forms of asthma, bronchitis, or emphysema.

A technique for reducing an inferior shoulder dislocation. watch to learn more

antaomy of small intestine

A pacemaker is a small device that's placed in the chest or abdomen to help control abnormal heart rhythms. This device uses electrical pulses to prompt the heart to beat at a normal rate. Pacemakers are used to treat arrhythmias (ah-RITH-me-ahs). Arrhythmias are problems with the rate or rhythm of the heartbeat.Feb 28, 2012

A spontaneous vaginal delivery (SVD) occurs when a pregnant woman goes into labor with or without use of drugs or techniques to induce labor, and delivers her baby in the normal manner, without forceps, vacuum extraction, or a cesarean section. Assisted vaginal delivery (AVD) occurs when a pregnant woman goes into labor with or without the use of drugs or techniques to induce labor, and requires the use of special instruments such as forceps or a vacuum extractor to deliver her baby vaginally.