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Spot Diagnosis


Alpha1-Antitrypsin Deficiency

Alpha 1-antitrypsin deficiency (α1-antitrypsin deficiency, A1AD or simply Alpha-1) is an autosomal codominant genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. There are several forms and degrees of deficiency, principally depending on whether the sufferer has one or two copies of the affected gene. Severe A1AT deficiency causes panacinar emphysema or COPD in adult life in many people with the condition (especially if they are exposed to cigarette smoke), as well as various liver diseases in a minority of children and adults, and occasionally more unusual problems. It is treated by avoidance of damaging inhalants, by intravenous infusions of the A1AT protein, by transplantation of the liver or lungs, and by a variety of other measures              read more...

A Cure For The Common Cold? New Drug Could Cure Nearly Any Viral Infection


Most bacterial infections can be treated with antibioticssuch as penicillin, discovered decades ago. However, such drugs are useless against viral infections, including influenza, the common cold, and deadly hemorrhagic fevers such as Ebola. 

Now, in a development that could transform how viral infections are treated, a team of researchers at MIT's Lincoln Laboratory has designed a drug that can identify cells that have been infected by any type of virus, then kill those cells to terminate the infection. 

In a paper published July 27 in the journal PLoS One, the researchers tested their drug against 15 viruses, and found it was effective against all of them - including rhinoviruses that cause the common cold, H1N1 influenza, a stomach virus, a poliovirus, dengue fever and several other types of hemorrhagic fever.read more... 

What is your answer!


This young boy suffers from:
A) Hutchinson triad
B) Foeser-Kennedey syndrome
C)  Marcus Gunn pupil
D) Marcus Gunn phenomenon
E) Argyll-Robertson pupil

What is the diagnose?


M.D. is a 35-year-old Malay labourer who presented
with progressive shortness of breath on exertion 3/12.
There was no history of chest pain, palpitation, or
swelling of the legs. He sleeps with two pillows.
There was no history of acute rheumatic fever. He denies using illicit drugs. He was diagnosed to have a“murmur” in the heart in childhood.
Physical examination:
Afebrile
Orthopnea
Tachypnea
Polycythaemia
BP136/85 mmHg, PR 98/min regular, non-collapsing
JVP: elevated
Heart: Apex beat 6th ICS 3 cm lateral to MCL,
forceful
No L parasterne
Loud split 2nd HS
EDM 1/6 in L sternal edge
Chest: NAD
Abdomen: Liver 2fb
CNS: NAD



What is your diagnosis?

Wilson disease

What is Wilson disease?

Wilson disease is a genetic disorder that prevents the body from getting rid of extra copper. A small amount of copper obtained from food is needed to stay healthy, but too much copper is poisonous. In Wilson disease, copper builds up in the liver, brain, eyes, and other organs. Over time, high copper levels can cause life-threatening organ damage.

Who gets Wilson disease?

People who get Wilson disease inherit two abnormal copies of the ATP7B gene, one from each parent. Wilson disease carriers, who have only one copy of the abnormal gene, do not have symptoms. Most people with Wilson disease have no known family history of the disease. A person's chances of having Wilson disease increase if one or both parents have it.
About one in 40,000 people get Wilson disease. It equally affects men and women. Symptoms usually appear between ages 5 to 35, but new cases have been reported in people aged 2 to 72 years.

What causes Wilson disease?

Wilson disease is caused by a buildup of copper in the body. Normally, copper from the diet is filtered out by the liver and released into bile, which flows out of the body through the gastrointestinal tract. People who have Wilson disease cannot release copper from the liver at a normal rate, due to a mutation of the ATP7B gene. When the copper storage capacity of the liver is exceeded, copper is released into the bloodstream and travels to other organs—including the brain, kidneys, and eyes.

What are the symptoms of Wilson disease?

Wilson disease first attacks the liver, the central nervous system, or both.
A buildup of copper in the liver may cause ongoing liver disease. Rarely, acute liver failure occurs; most patients develop signs and symptoms that accompany chronic liver disease, including
  • swelling of the liver or spleen
  • jaundice, or yellowing of the skin and whites of the eyes
  • fluid buildup in the legs or abdomen
  • a tendency to bruise easily
  • fatigue
A buildup of copper in the central nervous system may result in neurologic symptoms, including
  • problems with speech, swallowing, or physical coordination
  • tremors or uncontrolled movements
  • muscle stiffness
  • behavioral changes
Other signs and symptoms of Wilson disease include
  • anemia
  • low platelet or white blood cell count
  • slower blood clotting, measured by a blood test
  • high levels of amino acids, protein, uric acid, and carbohydrates in urine
  • premature osteoporosis and arthritis
Kayser-Fleischer rings result from a buildup of copper in the eyes and are the most unique sign of Wilson disease. They appear in each eye as a rusty-brown ring around the edge of the iris and in the rim of the cornea. The iris is the colored part of the eye surrounding the pupil. The cornea is the transparent outer membrane that covers the eye.

How is Wilson disease diagnosed?

Wilson disease is diagnosed through a physical examination and laboratory tests.
During the physical examination, a doctor will look for visible signs of Wilson disease. A special light called a slit lamp is used to look for Kayser-Fleischer rings in the eyes. Kayser-Fleischer rings are present in almost all people with Wilson disease who show signs of neurologic damage but are present in only 50 percent of those with signs of liver damage alone.
Laboratory tests measure the amount of copper in the blood, urine, and liver tissue. Most people with Wilson disease will have a lower than normal level of copper in the blood and a lower level of corresponding ceruloplasmin, a protein that carries copper in the bloodstream. In cases of acute liver failure caused by Wilson disease, the level of blood copper is often higher than normal. A 24-hour urine collection will show increased copper in the urine in most patients who display symptoms. A liver biopsy—a procedure that removes a small piece of liver tissue—can show if the liver is retaining too much copper. The analysis of biopsied liver tissue with a microscope detects liver damage, which often shows a pattern unique to Wilson disease.
Genetic testing may help diagnose Wilson disease in some people, particularly those with a family history of the disease.
Wilson disease can be misdiagnosed because it is rare and its symptoms are similar to those of other conditions.

Who should be screened for Wilson disease?

Anyone with unexplained liver disease or neurologic symptoms with evidence of liver disease, such as abnormal liver tests and symptoms of liver disease, should be screened for Wilson disease. People with a family history of Wilson disease, especially those with an affected sibling or parent, should also be screened. A doctor can diagnose Wilson disease before the appearance of symptoms. Early treatment can reduce or even prevent illness.

How is Wilson disease treated?

Wilson disease requires lifelong treatment to reduce and control the amount of copper in the body.
Initial therapy includes the removal of excess copper, a reduction of copper intake, and the treatment of any liver or central nervous system damage.
The drugs d-penicillamine (Cuprimine) and trientine hydrochloride (Syprine) release copper from organs into the bloodstream. Most of the copper is then filtered out by the kidneys and excreted in urine. A potential major side effect of both drugs is that neurologic symptoms can become worse—a possible result of the newly released copper becoming reabsorbed by the central nervous system. About 20 to 30 percent of patients using d-penicillamine will also initially experience other reactions to the medication, including fever, rash, and other drug-related effects on the kidneys and bone marrow. The risk of drug reaction and neurologic worsening appears to be lower with trientine hydrochloride, which should be the first choice for the treatment of all symptomatic patients.
Pregnant women should take a lower dose of d-penicillamine or trientine hydrochloride during pregnancy to reduce the risk of birth defects. A lower dose will also help reduce the risk of slower wound healing if surgical procedures are performed during childbirth.
Zinc, administered as zinc salts such as zinc acetate (Galzin), blocks the digestive tract’s absorption of copper from food. Zinc removes copper too slowly to be used alone as an initial therapy for people who already have symptoms, but it is often used in combination with d-penicillamine or trientine hydrochloride. Zinc is safe to use at full dosage during pregnancy.
Maintenance therapy begins when symptoms improve and tests show that copper has been reduced to a safe level. Maintenance therapy typically includes taking zinc and low doses of either d-penicillamine or trientine hydrochloride. Blood and urine should be monitored by a health care provider to ensure treatment is keeping copper at a safe level.
People with Wilson disease should reduce their dietary copper intake. They should not eat shellfish or liver, as these foods may contain high levels of copper. Other foods high in copper—including mushrooms, nuts, and chocolate—should be avoided during initial therapy but, in most cases, may be eaten in moderation during maintenance therapy. People with Wilson disease should have their drinking water checked for copper content and should not take multivitamins that contain copper.
If the disorder is detected early and treated effectively, people with Wilson disease can enjoy good health.

Lingua Scrotalis

What Is It?

When grooves develop in the tongue, the condition is called scrotal tongue. It makes the tongue look wrinkled. Scrotal tongue has other names, too. It also is called furrowed tongue, lingua fissurata, lingua plicata, lingua scrotalis, plicated tongue or grooved tongue.

The tongue can have many grooves or a single groove down the middle with others branching off from it. Scrotal tongue affects 2% to 5% of the population of the United States. Rates in other countries vary. However, one study reported that the condition is found in up to 21% of people worldwide.

People usually are born with this condition, but may not notice it right away. It gets more noticeable as you age.

Sometimes, scrotal tongue occurs as a result of infection or poor nutrition. It also is seen in people with certain health conditions. These include:


  • Melkersson-Rosenthal syndrome — This neurological disorder also includes facial nerve palsy and swelling of the face, especially the lips.
  • Down syndrome
  • Benign migratory glossitis, or geographic tongue — People with this condition have patches of smooth or bald tongue along with rougher areas where the taste buds are normal.



Symptoms
Scrotal tongue is a harmless condition. It usually has no symptoms. Sometimes, if the grooves are deep enough, you may get a burning sensation when you eat certain spicy or acidic foods. This is fairly rare, however. If the grooves are deep enough, they may harbor colonies of bacteria or bits of food. This can lead to bad breath or fungal infections of the tongue.

Diagnosis
Generally, people don't even know they have scrotal tongue until their dentist tells them. Your dentist or physician can diagnose this condition by looking at your tongue.

Expected Duration
Scrotal tongue is a lifelong condition.

Prevention
There is no way to prevent scrotal tongue.

Treatment
There is no treatment for scrotal tongue. If your tongue burns when you eat, you should avoid the foods that bother you. This should include cleaning your tongue daily with your toothbrush or a tongue scraper. You can buy these in drugstores.

When To Call A Professional
Check with your dentist if the grooves become uncomfortable.

Prognosis
Scrotal tongue is a lifelong condition, but it usually does not cause discomfort or problems.

Spot Diagnosis


Understanding Depression

Feeling down from time to time is a normal part of life. But when emptiness and despair take hold and won't go away, it may be depression. More than just the temporary "blues," the lows of depression make it tough to function and enjoy life like you once did. Hobbies and friends don’t interest you like they used to; you’re exhausted all the time; and just getting through the day can be overwhelming. When you’re depressed, things may feel hopeless, but with help and support you can get better. But first, you need to understand depression. Learning about depression—including its signs, symptoms, causes, and treatment—is the first step to overcoming the problem.

What is depression?
We all go through ups and downs in our mood. Sadness is a normal reaction to life’s struggles, setbacks, and disappointments. Many people use the word “depression” to explain these kinds of feelings, but depression is much more than just sadness.

Some people describe depression as “living in a black hole” or having a feeling of impending doom. However, some depressed people don't feel sad at all—instead, they feel lifeless, empty, and apathetic.

Whatever the symptoms, depression is different from normal sadness in that it engulfs your day-to-day life, interfering with your ability to work, study, eat, sleep, and have fun. The feelings of helplessness, hopelessness, and worthlessness are intense and unrelenting, with little, if any, relief.


Are you depressed?
If you identify with several of the following signs and symptoms, and they just
won’t go away, you may be suffering from clinical depression.
  • you can’t sleep or you sleep too much
  • you can’t concentrate or find that previously easy tasks are now difficult
  • you feel hopeless and helpless
  • you can’t control your negative thoughts, no matter how much you try
  • you have lost your appetite or you can’t stop eating
  • you are much more irritable and short-tempered than usual
  • you have thoughts that life is not worth living (Seek help immediately if this is the case)
Signs and symptoms of depression
Depression varies from person to person, but there are some common signs and symptoms. It’s important to remember that these symptoms can be part of life’s normal lows. But the more symptoms you have, the stronger they are, and the longer they’ve lasted—the more likely it is that you’re dealing with depression. When these symptoms are overwhelming and disabling, that's when it's time to seek help.

Common signs and symptoms of depression
Feelings of helplessness and hopelessness. A bleak outlook—nothing will ever get better and there’s nothing you can do to improve your situation.
Loss of interest in daily activities. No interest in former hobbies, pastimes, social activities, or sex. You’ve lost your ability to feel joy and pleasure.
Appetite or weight changes. Significant weight loss or weight gain—a change of more than 5% of body weight in a month.
Sleep changes. Either insomnia, especially waking in the early hours of the morning, or oversleeping (also known as hypersomnia).
Irritability or restlessness. Feeling agitated, restless, or on edge. Your tolerance level is low; everything and everyone gets on your nerves.
Loss of energy. Feeling fatigued, sluggish, and physically drained. Your whole body may feel heavy, and even small tasks are exhausting or take longer to complete.
Self-loathing. Strong feelings of worthlessness or guilt. You harshly criticize yourself for perceived faults and mistakes.
Concentration problems. Trouble focusing, making decisions, or remembering things.
Unexplained aches and pains. An increase in physical complaints such as headaches, back pain, aching muscles, and stomach pain.

Classes of hypertension drugs

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Diuretics
Diuretics ("water pills") increase the amount of sodium and water excreted into the urine by the kidneys. It is thought that they lower blood pressure mainly by reducing the volume of fluid in the blood vessels.

Diuretics commonly used for hypertension:
Acetazolamide - Diamox
Chlorthalidone - Thalitone
Hydrochlorothiazide - HydroDiuril, also sold as Microzide and Esidrix
Indapamide - Lozol

Metolazone - Zaroxolyn, also sold as Mykrox

Diuretics less commonly used for hypertension:
Amiloride hydrochloride - Midamor
Bumetanide - Bumex
Ethacrynic acid - Edecrin
Furosemide - Lasix
Spironolactone - Aldactone
Torsemide - Demadex
Triamterene - Dyrenium
ChampionUSA.com (Hanesbrands Inc.)

Beta-blockers
Beta blockers block the effect of adrenaline on the cardiovascular system, slow the heart rate, and reduce stress on the heart and the arteries. Acebutolol - Sectral
Atenolol - Tenormin
Betaxolol - Kerlone
Bisoprolol - Zebeta, also sold as Ziac
Carteolol - Cartrol
Carvedilol - Coreg
Labetalol - Normodyne, also sold as Trandate
Metoprolol - Lopressor, also sold as Toprol
Nadolol - Corgard
Penbutolol - Levatol
Propranolol - Inderal, Inderal LA
Timolol - Blocadren
Acebutolol - Sectral
Atenolol - Tenormin
Betaxolol - Kerlone
Bisoprolol - Zebeta, also sold as Ziac
Carteolol - Cartrol
Carvedilol - Coreg
Labetalol - Normodyne, also sold as Trandate
Metoprolol - Lopressor, also sold as Toprol
Nadolol - Corgard
Penbutolol - Levatol
Propranolol - Inderal, Inderal LA
Timolol - Blocadren

Calcium Channel Blockers
Calcium channel blockers can reduce blood pressure by dilating the arteries and, in some cases, reducing the force of the heart's contractions.

Amlodipine - Norvasc, also sold as Caduet and Lotrel
Diltiazem - Cardizem, also sold as Dilacor and Tiazac
Felodipine - Plendil
Isradipine - DynaCirc
Nicardipine - Cardene
Nifedipine - Procardia XL, also sold as Adalat
Nisoldipine - Sular
Verapamil hydrochloride - Isoptin, also sold as Calan, Verelan, and Covera
Amlodipine - Norvasc, also sold as Caduet and Lotrel
Diltiazem - Cardizem, also sold as Dilacor and Tiazac
Felodipine - Plendil
Isradipine - DynaCirc
Nicardipine - Cardene
Nifedipine - Procardia XL, also sold as Adalat
Nisoldipine - Sular
Verapamil hydrochloride - Isoptin, also sold as Calan, Verelan, and Covera

Angiotensin Converting Enzyme Inhibitors
The angiotensin converting enzyme inhibitors (the "ACE inhibitors") can lower blood pressure by dilating the arteries. Benazepril - Lotensin
Captopril - Capoten
Enalapril - Vasotec, also sold as Vaseretic
Fosinopril - Monopril
Lisinopril - Prinivil, also sold as Zestril
Moexipril - Univasc
Quinapril - Accupril
Ramipril - Altace
Trandolapril - Mavik
Benazepril - Lotensin
Captopril - Capoten
Enalapril - Vasotec, also sold as Vaseretic
Fosinopril - Monopril
Lisinopril - Prinivil, also sold as Zestril
Moexipril - Univasc
Quinapril - Accupril
Ramipril - Altace
Trandolapril - Mavik

Angiotensin II Receptor Blockers
The angiotensin II receptor blockers (the "ARBs") also reduce blood pressure by dilating the arteries. Candesartan - Atacand
Irbesartan - Avapro
Losartan - Cozaar
Telmisartan - Micardis
Valsartan - Diovan
Candesartan - Atacand
Irbesartan - Avapro
Losartan - Cozaar
Telmisartan - Micardis
Valsartan - Diovan
Other, Less Commonly Used Hypertension Drugs
Clonidine - Catapres
Doxazosin - Cardura
Guanabenz - Wytensin
Guanfacine - Tenex
Hydralazine hydrochloride - Apresoline
Methyldopa - Aldomet
Prazosin - Minipress
Reserpine - Serpasil
Terazosin - Hytrin

Combination Drugs For Hypertension
Amiloride and hydrochlorothiazide - Moduretic
Amlodipine and benazepril - Lotrel
Atenolol and chlorthalidone - Tenoretic
Benazepril and hydrochlorothiazide - Lotensin HCT
Bisoprolol and hydrochlorothiazide - Ziac
Captopril and hydrochlorothiazide - Capozide
Enalapril and hydrochlorothiazide - Vaseretic
Felodipine and enalapril - Lexxel
Hydralazine and hydrochlorothiazide - Apresazide
Lisinopril and hydrochlorothiazide - Prinzide, also sold as Zestoretic
Losartan and hydrochlorothiazide - Hyzaar
Methyldopa and hydrochlorothiazide - Aldoril
Metoprolol and hydrochlorothiazide - Lopressor HCT
Nadolol and bendroflumethiazide - Corzide
Propranolol and hydrochlorothiazide - Inderide
Spironolactone and hydrochlorothiazide - Aldactazide
Triamterene and hydrochlorothiazide - Dyazide, also sold as Maxide
Verapamil extended release) and trandolapril - Tarka

Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome
Ehlers-Danlos syndrome occurs in both men and women of all ethnic backgrounds. This inherited disorder is caused by abnormalities in the production of collagen, a connective tissue found throughout the body. Ehlers-Danlos syndrome leads to defects in the inherent strength, elasticity, integrity, and healing properties of tissues.

Symptoms
Ehlers-Danlos syndrome is a group of disorders, including six major types classified according to their specific symptoms. Typical symptoms of EDS include:
  •  skin can be pulled away from the body as if elastic (skin extensibility)
  •  skin is fragile and tears easily (tissue fragility)
  •  joints can move beyond the normal range and easily dislocate (joint hypermobility)
Which specific additional symptoms an individual with EDS has, such as joint pain, skin scarring, hernias, or easy bruising, depends on which type of EDS is present.

Similar disorders
In some types of the syndrome, diagnosis can be made by a special test. In most cases, though, the syndrome is diagnosed based on the physical symptoms and family medical history.

However, there are several disorders that have some of the characteristics of Ehlers-Danlos syndrome. For example, in cutis laxa the skin is loose, hanging, and wrinkled. In cutis hyperelastica, the skin can be pulled away from the body but it does not tear. In Marfan syndrome, the joints are very mobile. In the past, Menkes disease, a copper metabolism disorder, was thought to be a form of Ehlers-Danlos syndrome. Because of these similar disorders, a correct diagnosis is very important.

Treatment
Although there is no cure, good medical care can provide a normal life span for most people with Ehlers-Danlos syndrome. Care focuses on:
  • Preventing trauma to the joints. People with Ehlers-Danlos should not perform contortions or do heavy or repetitive lifting. Exercise and physical therapy are important to promote joint stability and reduce dislocations. 
  • Avoiding trauma to the skin and internal organs because of fragile skin and poor wound healing. This would include staying away from potentially traumatic recreational activities. 
  • Practicing meticulous dental care to avoid gum and tooth problems. 
  • Visiting the ophthalmologist regularly to be screened for eye problems. 
  • Genetic counseling, if available, especially for people wanting to have children.

Spot diagnosis

ANSWER

Cornu Cutaneum



A cutaneous horn (Cornu Cutaneum) is a relatively rare tumour, most often arising on sun-exposed skin in elderly men, usually after the Vth decade. The tumor is often conical, consisting of marked retention of stratum corneum. This lesion can be caused by many primary underlying processes that may be benign, premalignant or malignant, thus the importance of accurate determination of the nature of the conditions at the base of the lesion. Surgery is the treatment of choice. We describe an illustrative case with cutaneous horn of the forearm. We also review various known causes of cutaneous horn and the pertinent literature.


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