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.

Tonsillitis is inflammation of the tonsils, two oval-shaped pads of tissue at the back of the throat — one tonsil on each side. Signs and symptoms of tonsillitis include swollen tonsils, sore throat, difficulty swallowing and tender lymph nodes on the sides of the neck. Most cases of tonsillitis are caused by infection with a common virus, but bacterial infections also may cause tonsillitis. Because appropriate treatment for tonsillitis depends on the cause, it's important to get a prompt and accurate diagnosis. Surgery to remove tonsils, once a common procedure to treat tonsillitis, is usually performed only when bacterial tonsillitis occurs frequently, doesn't respond to other treatments or causes serious complications.

Neonatal resuscitation skills are essential for all health care providers who are involved in the delivery of newborns. The transition from fetus to newborn requires intervention by a skilled individual or team in approximately 10% of all deliveries. This figure is concerning because 81% of all babies in the United States are born in nonteaching, nonaffiliated level I or II hospitals. In such hospitals, the volume of delivery service may not be perceived as sufficient economic justification for the continuous in-hospital presence of personnel with high-risk delivery room experience, as recommended by the American Academy of Pediatrics (AAP) and the American College of Obstetricians and Gynecologists (ACOG). [1] Perinatal asphyxia and extreme prematurity are the 2 complications of pregnancy that most frequently necessitate complex resuscitation by skilled personnel. However, only 60% of asphyxiated newborns can be predicted ante partum. The remaining newborns are not identified until the time of birth. Additionally, approximately 80% of low-birth-weight infants require resuscitation and stabilization at delivery. Nearly one half of newborn deaths (many of which involve extremely premature infants) occur during the first 24 hours after birth. Many of these early deaths also have a component of asphyxia or respiratory depression as an etiology. For the surviving infants, effective management of asphyxia in the first few minutes of life may influence long-term outcome. Even though prenatal care can identify many potential fetal difficulties ante partum, allowing maternal transfer to the referral center for care, many women who experience preterm labor are not identified prospectively and therefore are not appropriately transferred to a tertiary perinatal center. Consequently, many deliveries of extremely premature infants occur in smaller hospitals. For this reason, all personnel involved in delivery room care of the newborn should be trained adequately in all aspects of neonatal resuscitation. Additionally, equipment that is appropriately sized to resuscitate infants of all gestational ages should be available in all delivering institutions, even if the institution does not care for preterm or intensive care infants. Along with the necessary skills, the practitioner should approach any resuscitation with a good comprehension of transitional physiology and adaptation, as well as an understanding of the infant's response to resuscitation. Resuscitation involves much more than possessing an ordered list of technical skills and having a resuscitation team; it requires excellent assessment skills and a grounded understanding of physiology.

An interesting documentary video from Discovery channel from the show "Human Files Night" explaining the anatomy and everything related to female genital tract in a very interesting professional way.

Laryngectomy is the removal of the larynx and separation of the airway from the mouth, nose and esophagus. In a total laryngectomy the entire larynx is removed and in a partial laryngectomy only a portion is taken out. The laryngectomee breathes through an opening in the neck known as a stoma.

Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria . The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area.

Histology of Parotid Gland

Acne is a skin disease that involves the oil glands at the base of hair follicles. Acne is not dangerous, but can leave skin scars. Types of pimples include whiteheads, blackheads, papules, pustules, nobules, cysts. ... Treatment for acne may depend on how severe and persistent .

Heartburn is a burning pain in your chest, just behind your breastbone. The pain is often worse when lying down or bending over. Occasional heartburn is common and no cause for alarm. Most people can manage the discomfort of heartburn on their own with lifestyle changes and over-the-counter medications. Heartburn that is more frequent or interferes with your daily routine may be a symptom of a more serious condition that requires medical care

Vaginal Speculum and Bimanual Exam

ectal exam is an internal examination of the rectum such as by a physician or other healthcare professional.
The digital rectal examination (DRE, Latin palpatio per anum or PPA) is a relatively simple procedure. The patient is placed in a position where the anus is accessible and relaxed (lying on the side, squatting on the examination table, bent over the examination table, etc). The physician inserts a gloved and lubricated finger into the rectum through the anus and palpates the insides.
The DRE is inadequate as a screening tool for colorectal cancer because it examines less than 10% of the colorectal mucosa; colonoscopy is preferred. However, it's an important part of a general examination, as many tumors or other diseases are made manifest in the distal part of the rectum.

This examination may be used: * for the diagnosis of rectal tumors and other forms of cancer; * in males, for the diagnosis of prostatic disorders, notably tumors and benign prostatic hyperplasia; * for the diagnosis of appendicitis or other examples of an acute abdomen (i.e. acute abdominal symptoms indicating a serious underlying disease); * for the estimation of the tonicity of the anal sphincter, which may be useful in case of fecal incontinence or neurologic diseases, including traumatic spinal cord injuries; * in females, for gynecological palpations of internal organs * for examination of the hardness and color of the feces (ie. in cases of constipation, and fecal impaction); * prior to a colonoscopy or proctoscopy. * to evaluate haemorrhoids

The DRE is frequently combined with an FOBT (fecal occult blood test), which may be useful for diagnosing the etiology of an anemia and/or confirming a gastrointestinal bleed.

Sometimes proctoscopy may also be part of a rectal examination.

Nasal polyps are soft, painless, noncancerous growths on the lining of your nasal passages or sinuses. They hang down like teardrops or grapes. They result from chronic inflammation due to asthma, recurring infection, allergies, drug sensitivity or certain immune disorders.

Orchitis (or-KIE-tis) is an inflammation of one or both testicles. It is usually caused by a bacterial infection or by the mumps virus. Bacterial orchitis can be caused by sexually transmitted infections (STIs), particularly gonorrhea or chlamydia. Bacterial orchitis often results from epididymitis, an inflammation of the coiled tube (epididymis) at the back of the testicle that stores and carries sperm. In that case, it's called epididymo-orchitis. Orchitis causes pain and can affect fertility. Medication can treat the causes of bacterial orchitis and can ease some signs and symptoms of viral orchitis. But it may take several weeks for scrotal tenderness to disappear.

Lymphoma is cancer of the lymph system (or lymphatic system), which is part of our immunity. It is characterized by the formation of solid tumors in the immune system.1 The cancer affects immune cells called lymphocytes, which are white blood cells. Diagram of the lymphatic system The lymphatic system is a system of vessels that branch back from virtually all our tissues to drain excess fluids and present foreign material to the lymph nodes. Learn more about the lymphatic system here. Statistics from the US National Cancer Institute estimate that there are nearly 20 cases of non-Hodgkin's lymphoma for every 100,000 people in the American population.2 Hodgkin's lymphoma, meanwhile, is relatively rare, with around three cases in every 100,000 people.3

Laparostomy is a surgical condition in which the abdomen is left open to contrast a condition named Abdominal Compartment Syndrome

Polycythemia vera (pol-e-sigh-THEE-me-uh VEER-uh) is a slow-growing type of blood cancer in which your bone marrow makes too many red blood cells. Polycythemia vera may also result in production of too many of the other types of blood cells — white blood cells and platelets. These excess cells thicken your blood and cause complications, such as such as a risk of blood clots or bleeding. Polycythemia vera isn't common. It usually develops slowly, and you may have it for years without noticing signs or symptoms. Often, polycythemia vera is found during a blood test done for some other reason. Without treatment, polycythemia vera can be life-threatening. However, with proper medical care, many people experience few problems related to this disease. Over time, there's a risk of progressing to more-serious blood cancers, such as myelofibrosis or acute leukemia.

Ganglion Cyst Volar Wrist Removal Ganglion cysts are noncancerous lumps that most commonly develop along the tendons or joints of your wrists or hands. They also may occur in the ankles and feet. Ganglion cysts are typically round or oval and are filled with a jellylike fluid. Small ganglion cysts can be pea-sized, while larger ones can be around an inch (2.5 centimeters) in diameter. Ganglion cysts can be painful if they press on a nearby nerve. Their location can sometimes interfere with joint movement. If your ganglion cyst is causing you problems, your doctor may suggest trying to drain the cyst with a needle. Removing the cyst surgically also is an option. But if you have no symptoms, no treatment is necessary. In many cases, the cysts go away on their own.

Proximal Hypospadias repaired by Tube Onaly Urethroplasty

This video: Claudication is pain caused by too little blood flow, usually during exercise. Sometimes called intermittent claudication, this condition generally affects the blood vessels in the legs, but claudication can affect the arms, too. At first, you'll probably notice the pain only when you're exercising, but as claudication worsens, the pain may affect you even when you're at rest. Although it's sometimes considered a disease, claudication is technically a symptom of a disease. Most often, claudication is a symptom of peripheral artery disease, a potentially serious but treatable circulation problem in which the vessels that supply blood flow to your legs or arms are narrowed. Fortunately, with treatment, you may be able to maintain an active lifestyle without pain.

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.