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 patient has spasticity in the lower extremities greater than the upper extremities. The hips and knees are flexed and adducted with the ankles extended and internally rotated. When the patient walks both lower extremities are circumducted and the upper extremities are held in a mid or low guard position. This type of gait is usually seen with bilateral periventricular lesions. The legs are more affected than the arms because the corticospinal tract axons that are going to the legs are closest to the ventricles.

Femoroacetabular impingement (FAI) is a condition in which extra bone grows along one or both of the bones that form the hip joint — giving the bones an irregular shape. Because they do not fit together perfectly, the bones rub against each other during movement. Over time this friction can damage the joint, causing pain and limiting activity.

A Cesarean section (C-section) is surgery to deliver a baby. The baby is taken out through the mother's abdomen. In the United States, almost one in three women has their babies this way. Some C-sections are planned, but many are done when unexpected problems happen during delivery. Reasons for a C-section may include

Watch that video to know the Erectile Dysfunction - Cause and Treatment

Hemophagocytic lymphohistiocytosis is a rare but life threatening condition characterised by activation of macrophages which result in phagocytosis of RBCs and cytokine mediated tissue damage. This presentation aims to discuss the genetic basis, clinical features, diagnostic criteria and management options in this serious condition. The management options in HLH include Etoposide, Dexamethasone, Cyclosorine, Tacrolimus, Alemtuzumab and stem cell transplant.

Nose Plastic Surgery: Open Rhinoplasty

The jaw thrust is a method of opening the airway of a patient. The airway is very important in first aid! It consists of the structures in the back of the throat and upper neck. A patient who is unconscious is not able to maintain their own airway as it can become blocked by the tongue (see picture). Normally, first aid courses teach the head tilt – chin lift technique to open an airway. However, this airway manoeuvre involves significant movement of the patient’s neck. Therefore if there is any suspicion of a spinal (neck) injury it may cause further damage.

Watch that video to know the Serious Side Effects of STEROIDS on Human Body

Simple trapeziectomy performed through the anterior approach for osteoarthritis of the thumb-base (trapezio-metacarpal joint). Performed at the Queen Victoria Hospital, East Grinstead.

A Documentary on Uterine Transplantation. Dr. Edwin Ramirez pioneers this new breakthrough medical procedure, destined to change the world.

Exo-Glove Poly (Seoul National University). This wearable robot helps disabled patients regain control of their hands.

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.

The discussion begins with a basic explanation of Bone biology taking into consideration the osteoblast and osteoclast balance. Concepts of RANK, RANK ligand and Osteoprotegerin are included. Risk factors for Osteoporosis such as Age, alcohol, smoking, sedentary lifestyle are also discussed.

A 3D video clip showing anatomy and physiology of the heart

Lumbar puncture is a common emergency department procedure used to obtain information about the cerebrospinal fluid (CSF) for diagnostic and, less commonly, therapeutic reasons. Please refer to the full article on Lumbar Puncture for more details on the lumbar puncture procedure. Lumbar puncture is typically performed via “blind” surface landmark guidance. The surface landmark technique is reported to be successful in a high percentage of attempted lumbar punctures; however, surface landmark identification of underlying structures has been shown to be accurate only 30% of the time. [1] Unsuccessful identification of proper landmarks often leads to increased difficulty in obtaining CSF, if the procedure is performed, and a higher rate of complications. Few alternatives are available in these cases. If available, fluoroscopic-guided lumbar puncture may be performed. If not, treatment is sometimes initiated empirically without obtaining CSF. Disadvantages of using fluoroscopy include limited availability or necessary transport of the patient outside of the emergency department, inability to directly visualize the spinal canal, and inherent radiation exposure

Esophageal atresia is an abnormality, or birth defect, of the esophagus that occurs early in pregnancy, as the baby is developing. The esophagus forms in the first few months of fetal life as a long, hollow, continuous tube joining the mouth to the stomach. In newborns with this birth defect, formation of this continuous esophageal tube is interrupted. esophageal-artresia-2In most cases, two separate tubes are formed, an upper (proximal) tube connected to the mouth and a lower (distal) tube connected to the stomach. This seperated tubes are sealed off creating a pouch on either side; the gap between these pounches can be short or very long. Saliva can accumulate in the upper pouch as it cannot drain into the stomach.

A short story about Warts, Are they contagious?

Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal.

Though most snakes aren't venomous, the ones with a deadly bite are so scary that many researchers think humans evolved to naturally fear the sinuous creatures. With good reason. In the video, two men milk the venom of a Russell's viper and then show what happens when one drop of that venom mixes with a glassful of human blood. It's terrifying.