Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase.

In cases when the presentation is unclear, ultrasonography is the imaging methodology of choice. The characteristic finding is the presence of a "target sign". Ultrasonography is not required in patients with obvious clinical diagnosis (as seen in this patient). Such patients can proceed directly to treatment with diagnostic and therapeutic air (pneumatic) or water-soluble (hydrostatic contrast) enema.

Galactosemia

Body Mass Index (BMI) is a person's weight in kilograms divided by the square of height in meters. A high BMI can be an indicator of high body fatness. BMI can be used to screen for weight categories that may lead to health problems but it is not diagnostic of the body fatness or health of an individual.May 15, 2015

Delayed puberty is defined as the absence of any signs suggestive of puberty by 14 years of age. In this case, the patient's pubertal delay appears to be constitutional because of his positive family history, absence of syndromic features or systemic illness, and bone age of 12 years. Puberty correlates more closely with bone age than chronological age. On follow-up, the patient will most likely demonstrate a similar onset of puberty as his father.

There is a strong association with obesity. In children younger than 10 years, it is associated with metabolic endocrine disorders {hypothyroidism, panhypopituitarism, hypogonadism, renal osteodystrophy, growth hormone abnormalities). SCFE is considered chronic if it has been present more than 3 weeks and acute if it has been present for 3 weeks or less. It is called "stable" if the patient can bear weight and "unstable" if the patient cannot ambulate. Unstable SCFE is associated with more complications, including avascular necrosis of the femoral head (AVN). SCFE is diagnosed by x-ray of the pelvis and bilateral hips. The underlying cause is a widened epiphyseal growth plate, due to abnormal cartilage maturation and endochondral ossification. The treatment is surgical, requiring immediate internal fixation with a single screw. Delay in treatment {> 24 hours) leads to increased AVN, SCFE progression from stable to unstable, and high risk of future degenerative arthritis. Prophylactic contralateral fixation of the unaffected hip is not routinely done in the U.S., except in patients with endocrine abnormalities.

Cirrhosis is a late stage of scarring (fibrosis) of the liver caused by many forms of liver diseases and conditions, such as hepatitis and chronic alcoholism. The liver carries out several necessary functions, including detoxifying harmful substances in your body, cleaning your blood and making vital nutrients.Apr 6, 2016

This patient has infectious mononucleosis (IM), a disease caused by the Epstein-Barr virus. IM is a systemic viral infection that is usually seen in children and adolescents. The common presentation is fever with pharyngitis or tonsillitis, cervical adenopathy, splenomegaly, and mild hepatitis.

Clinical Anatomy Lecture Illustrate The Anatomy Of The Abdominal Wall

In this video, we will cover the function of the liver and how cancer may arise.

ATTENTION! 5 Warning Signs Of BREAST CANCER That Many Women Ignore!

A retroverted uterus (tilted uterus, tipped uterus) is a uterus that is tilted posteriorly. This is in contrast to the slightly "anteverted" uterus that most women have, which is tipped forward toward the bladder, with the anterior end slightly concave.

Instructions for use of FPT kegel exerciser. Kegels work! But kegels performed with progressive resistive weight training work better and faster.

Remove of ascaris lumbricoides worms due to intestinal obstruction

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Idiopathic Hypoproteinemia or Intestinal Lymphangiectasia is a malabsorption disease due to abnormalities of the lymph vessels.

-Traumatic amputation of a body part requires rapid transport of the appendage, which should be wrapped in a saline-moistened gauze, placed in a plastic bag, and transported in a container filled with ice mixed with either saline or sterile water to best preserve the body part and attempt replantation.

A nephron (from Greek νεφρός (nephros) meaning "kidney") is the basic structural and functional unit of the kidney. Its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine.

Bipolar disorder, also known as manic-depressive illness, is a brain disorder that causes unusual shifts in mood, energy, activity levels, and the ability to carry out day-to-day tasks. There are four basic types of bipolar disorder; all of them involve clear changes in mood, energy, and activity levels.

Symptoms of serotonin syndrome include a classic triad of mental status changes (eg, anxiety, delirium, confusion, restlessness), autonomic dysregulation (eg, diaphoresis, tachycardia, hypertension, hyperthermia, diarrhea, mydriasis), and neuromuscular hyperactivity (eg, hyperreflexia, tremor, rigidity, myoclonus, ocular clonus). Serotonin syndrome is clinically diagnosed and laboratory tests are used to rule out other etiologies. It usually occurs due to inadvertent interactions between drugs, therapeutic use of multiple serotonergic agents, or serotonergic medication overdose. Treatment involves discontinuation of serotonergic drugs, supportive measures, and sedation with benzodiazepines. In severe cases, a serotonin antagonist (cyproheptadine) may be used.