Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired.

Adrenoleukodystrophy, or ALD, is a deadly genetic disease that affects 1 in 18 000 people. It most severely affects boys and men. This brain disorder destroys myelin, the protective sheath that surrounds the brain's neurons -- the nerve cells that allow us to think and to control our muscles.

X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma.

As a result, the amount of glucose in the blood increases while the cells are starved of energy. Over time, high blood glucose levels damage nerves and blood vessels, leading to complications such as heart disease and stroke, the leading causes of death among people with diabetes.

Possible complications include: Cardiovascular disease. ... Nerve damage (neuropathy). ... Kidney damage (nephropathy). ... Eye damage (retinopathy). ... Foot damage. ... Skin conditions. ... Hearing impairment. ... Alzheimer's disease.

Binswanger's disease is a type of vascular dementia that involves white matter infarcts. Patients with this disease usually present with apathy, agitation, and bilateral corticospinal or bulbar signs

Vertebrobasilar insufficiency is typically secondary to emboli, thrombi, or arterial dissection. The labyrinth and brainstem are commonly affected, and symptoms may include vertigo, dizziness, dysarthria, diplopia, and numbness.

This is a Video in Clinical Medicine from the New England Journal of Medicine. Tympanocentesis in Children with Acute Otitis Media Overview Tympanocentesis is defined as needle aspiration of fluid from the middle ear. In children with acute otitis media, drainage of pus from the middle ear results in a rapid and marked improvement in symptoms and enables the clinician to prescribe tailored antimicrobial therapy. This video will demonstrate the technique of tympanocentesis. Indications Tympanocentesis is recommended in children with refractory acute otitis media, in immunocompromised children with otitis media, and in children with suppurative complications of acute otitis media, . . . .

Encephalopathy means disorder or disease of the brain. In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of global brain dysfunction; this syndrome can have many different organic and inorganic causes.

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.

This is a video which discusses the Vioptix tOX system of near infrared spectroscopy for the monitoring of free tissue transfer. Having information as to the health of the microvascular anastomosis is critical to improved patient outcome and free tissue survival. With better monitoring, supplementing clinical evaluation, surgeons are able to assess the health of the free tissue better and potentially improve patient outcome. The example in this video is of a free breast reconstruction where the tOX system was used to remotely monitor the free flap. The surgeon can follow the flap real time and more importantly follow trend lines to help predict flap complications.

This 13 yrs young girl has had left temporo parietal cavernous angioma ,she came with acute bleed with raised ICT ,aphasia ,right hemiparesis ,leision was excised microsurgically with excellent out come

Wondering how pregnancy happens? It’s not as simple as it seems! Pregnancy takes several days, and there are lots of steps. Here are the basics on how pregnancy works.

The cause of pectus excavatum is not known however it can run in families, with up to 25 percent of affected patients reporting chest wall abnormalities in other family members. Pectus excavatum occurs in approximately 1 out of 400–1000 children and is three to five times more common in males than females.

Early labour contractions usually feel like period pain, or you might experience a lower backache at 20 to 30 minute intervals. Sometimes these pains radiate from back to front, or vice versa. There's no need to start timing the contractions straight away – if they are mild contractions, ignore them. The first stage of labor is the longest and involves three phases: Early Labor Phase –The time of the onset of labor until the cervix is dilated to 3 cm. Active Labor Phase – Continues from 3 cm. until the cervix is dilated to 7 cm. Transition Phase – Continues from 7 cm. until the cervix is fully dilated to 10 cm.

There's no single best approach to uterine fibroid treatment — many treatment options exist. If you have symptoms, talk with your doctor about options for symptom relief. Watchful waiting Many women with uterine fibroids experience no signs or symptoms, or only mildly annoying signs and symptoms that they can live with. If that's the case for you, watchful waiting could be the best option. Fibroids aren't cancerous. They rarely interfere with pregnancy. They usually grow slowly — or not at all — and tend to shrink after menopause, when levels of reproductive hormones drop. Medications Medications for uterine fibroids target hormones that regulate your menstrual cycle, treating symptoms such as heavy menstrual bleeding and pelvic pressure. They don't eliminate fibroids, but may shrink them. Medications include: Gonadotropin-releasing hormone (Gn-RH) agonists. Medications called Gn-RH agonists (Lupron, Synarel, others) treat fibroids by blocking the production of estrogen and progesterone, putting you into a temporary postmenopausal state. As a result, menstruation stops, fibroids shrink and anemia often improves. Your doctor may prescribe a Gn-RH agonist to shrink the size of your fibroids before a planned surgery. Many women have significant hot flashes while using Gn-RH agonists. Gn-RH agonists typically are used for no more than three to six months because symptoms return when the medication is stopped and long-term use can cause loss of bone. Progestin-releasing intrauterine device (IUD). A progestin-releasing IUD can relieve heavy bleeding caused by fibroids. A progestin-releasing IUD provides symptom relief only and doesn't shrink fibroids or make them disappear. It also prevents pregnancy. Tranexamic acid (Lysteda). This nonhormonal medication is taken to ease heavy menstrual periods. It's taken only on heavy bleeding days. Other medications. Your doctor might recommend other medications. For example, oral contraceptives or progestins can help control menstrual bleeding, but they don't reduce fibroid size. Nonsteroidal anti-inflammatory drugs (NSAIDs), which are not hormonal medications, may be effective in relieving pain related to fibroids, but they don't reduce bleeding caused by fibroids. Your doctor may also suggest that you take vitamins and iron if you have heavy menstrual bleeding and anemia

Beckwith-Wiedemann Syndrome (BWS) is a congenital overgrowth syndrome, which can affect all systems of the body. It was first recognised in 1963-64 by Dr J. Bruce Beckwith, a paediatric pathologist in America and, independently, by Dr H.E. Wiedemann, a German geneticist.

Super Obese individuals (people with a Body Mass Index over 45) have an increased risk during any surgery. And the longer the time under anesthesia, the greater the risk. Gastric bypass surgery can last over 2 hours. Duodenal switch surgery often takes over 4 hours. That’s a long time to be under anesthesia.

Smoke inhalation is the leading cause of death due to fires. It produces injury through several mechanisms, including thermal injury to the upper airway, irritation or chemical injury to the airways from soot, asphyxiation, and toxicity from carbon monoxide (CO) and other gases such as cyanide.

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