Porphyria

The porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway (also called porphyrin pathway). They manifest with either neurological complications ("acute") or skin problems ("cutaneous"), or occasionally both. The porphyrias may be classified by the primary site of the overproduction and accumulation of the porphyrins (or their chemical precursors) as hepatic porphyrias, where porphyrins are overproduced in the liver predominantly, or erythropoietic porphyrias, where the overproduction is confined to the bone marrow and the erythrocye (red blood cell) and its precursors.

The acute, or hepatic, porphyrias primarily affect the nervous system, resulting in abdominal pain, vomiting, acute neuropathy, muscle weakness, seizures, and mental disturbances, including hallucinations, depression, anxiety, and paranoia. Cardiac arrhythmias and tachycardia (high heart rate) may develop as the autonomic nervous system is affected. Pain can be severe and can, in some cases, be both acute and chronic in nature. Constipation is frequently present, as the nervous system of the gut is affected, but diarrhea can also occur.

Given the many presentations and the relatively low occurrence of porphyria, the patient may initially be suspected to have other, unrelated conditions. For instance, the polyneuropathy of acute porphyria may be mistaken for Guillain-Barré syndrome, and porphyria testing is commonly recommended in those situations.

The cutaneous, or erythropoietic, porphyrias primarily affect the skin, causing photosensitivity (photodermatitis), blisters, necrosis of the skin and gums, itching, and swelling, and increased hair growth on areas such as the forehead. Often there is no abdominal pain, distinguishing it from other porphyrias.

In some forms of porphyria, accumulated heme precursors excreted in the urine may cause various changes in color, after exposure to sunlight, to a dark reddish or dark brown color. Even a purple hue or red urine may be seen.

Often, empirical treatment is required if the diagnostic suspicion of a porphyria is high since acute attacks can be fatal. A high-carbohydrate diet is typically recommended; in severe attacks, a glucose 10% infusion is commenced, which may aid in recovery. Pain is severe, frequently out of proportion to physical signs and often requires the use of opiates to reduce it to tolerable levels. Pain should be treated as early as medically possible, due to its severity. Nausea can be severe; it may respond to phenothiazine drugs but is sometimes intractable. Hot water baths/showers may lessen nausea temporarily, though caution should be used to avoid burns or falls. Some liver diseases may cause porphyria even in the absence of genetic predisposition. These include hemochromatosis and hepatitis C. Treatment of iron overload may be required.

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Heterochromia Iridium

In anatomy, heterochromia refers to a difference in coloration, usually of the iris but also of hair or skin. Heterochromia is a result of the relative excess or lack of melanin. It may be inherited, or caused by genetic mosaicism, disease, or injury.

Heterochromia of the eye is of two kinds. In complete heterochromia, one iris is a different color from the other. In partial heterochromia or sectoral heterochromia, part of one iris is a different color from its remainder.

Eye color, specifically the color of the irises, is determined primarily by the concentration and distribution of melanin. The affected eye may be hyperpigmented (hyperchromic) or hypopigmented (hypochromic). In humans, usually, an excess of melanin indicates hyperplasia of the iris tissues, whereas a lack of melanin indicates hypoplasia.

Heterochromia iridium can be inherited through autosomal dominant fashion from men or women where the gene is passed on. It can also be caused through injury. It can also be caused by tumours, inflammation through use of eye drops or disease.

Complete heterochromia iridium is more frequently observed in other animal species such as dogs like the siberian husky or cats. Complete heterochromia iridium in other species almost always involves one blue eye. In animals melanin is used to give colour of skin, hair and eyes. In eyes, if there is low melanin pigment to none, they will be blue, if there is a bit of pigment they will be green and if there is a lot of pigment they will be brown. Therefore in animals with complete heterochromia ridium the blue eye is caused by a very little amount of melanin to none.

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Lyme disease

Lyme disease, sometimes referred to as Lyme infection, is a bacterial illness, transmitted to humans by the bite of deer ticks (Ixodes ticks) carrying a bacterium known as Borrelia burgdorferi. The disease has been reported in the Northeast, Mid-Atlantic, North Central, and Pacific coastal regions of the United States and in Europe, where it was first described almost 100 years ago. Lyme disease can affect the skin, joints, heart and the nervous system. It occurs in phases - the early phase beginning at the site of the tick bite with an expanding ring of redness, being diagnosed on the patient's clinical signs of illness and the detection of Lyme antibodies in the blood.

Lyme disease can affect multiple body systems and produce a range of symptoms. Not all patients with Lyme disease will have all symptoms and many of the symptoms are not specific to Lyme disease, but can occur with other diseases as well. The incubation period from infection to the onset of symptoms is usually one to two weeks, but can be much shorter (days), or much longer (months to years). Symptoms most often occur from May through September, because the nymphal stage of the tick is responsible for most cases.

Lyme disease is diagnosed clinically based on symptoms, objective physical findings (such as erythema migrans, facial palsy or arthritis) or a history of possible exposure to infected ticks, as well as serological blood tests. The EM rash is not always a bullseye, i.e., it can be red all the way across. When making a diagnosis of Lyme disease, health care providers should consider other diseases that may cause similar illness. Not all patients infected with Lyme disease will develop the characteristic bullseye rash and many may not recall a tick bite.

Lyme disease is classified as a zoonosis, as it is transmitted to humans from a natural reservoir among rodents by ticks that feed on both sets of hosts. Hard-bodied ticks of the genus Ixodes are the main vectors of Lyme disease. Most infections are caused by ticks in the nymphal stage, as they are very small and may feed for long periods of time undetected. Larval ticks are very rarely infected. Tick bites often go unnoticed because of the small size of the tick in its nymphal stage, as well as tick secretions that prevent the host from feeling any itch or pain from the bite. However, transmission is quite rare, with only about 1% of recognized tick bites resulting in Lyme disease; this may be because an infected tick must be attached for at least a day for transmission to occur.

Folk remedies for tick removal tend to be ineffective, offer no advantages in preventing the transfer of disease, and may increase the risks of transmission or infection. The best method is simply to pull the tick out with tweezers as close to the skin as possible, without twisting, and avoiding crushing the body of the tick or removing the head from the body. The risk of infection increases with the time the tick is attached and if a tick is attached for less than 24 hours, infection is unlikely. However, since these ticks are very small, especially in the nymph stage, prompt detection is quite difficult.

Antibiotics are the primary treatment for Lyme disease; the most appropriate antibiotic treatment depends upon the patient and the stage of the disease. According to the Infectious Diseases Society of America guidelines, the antibiotics of choice are doxycycline (in adults), amoxicillin (in children), erythromycin (for pregnant women) and ceftriaxone, with treatment lasting 10 to 28 days. Alternative choices are cefuroxime and cefotaxime. Treatment of pregnant women is similar, but doxycycline should not be used.

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Pica - Eating Disorder

The term Pica originates from the Latin word for magpie, a bird that is reputed because of their unusual eating behaviors where they are known to eat almost anything. It is characterized by an appetite for substances largely non-nutritive. For these actions to be considered Pica, they must persist for more than one month at an age where eating such objects is considered developmentally inappropriate. There are different variations of Pica, as it can be from a cultural tradition, acquired taste or a neurological mechanism such as an iron deficiency, or chemical imbalance. It can lead to intoxication in children which can result in an impairment in both physical and mental development.

In addition, it can also lead to surgical emergencies due to an intestinal obstruction as well as more subtle symptoms such as nutritional deficiencies and parasitosis. Stressors such as maternal deprivation, family issues, parental neglect, pregnancy, poverty, and a disorganized family structure are strongly linked to Pica.

This non-food cravings eating disorder can be found in 10 percent to 32 percent of children between the ages of 1 and 6, according to the National Library of Medicine. These youngsters will eat paint, plaster, string, hair, and cloth. Older children consume anything from animal droppings, sand, and insects to leaves, pebbles, and cigarette butts. Teens and adults most commonly eat clay or soil, though people have been found to ingest lead, laundry starch, plastic, pencil erasers, ice, fingernails, paper, coal, chalk, wood, plaster, light bulbs, needles, string, and wire.

Pica is more commonly seen in women and children, where it affects people of all ages in these subgroups. Particularly it is seen in pregnant women, small children, and those with developmental disabilities such as autism. For children with autism, suffering from Pica disorder has seemed to be even more dangerous. Children eating painted plaster containing lead may suffer brain damage from lead poisoning. There is a similar risk from eating dirt near roads that existed prior to the phaseout of tetra-ethyl lead in petrol (in some countries) or prior to the cessation of the use of contaminated oil to settle dust. In addition to poisoning, there is also a much greater risk of gastro-intestinal obstruction or tearing in the stomach. Another risk of dirt-eating is the possible ingestion of animal feces and accompanying parasites.

Certain tests can be a good start toward determining treatment, including hemoglobin to check for anemia, lead levels if paint or objects coated with lead paint have been consumed, and gastrointestinal tests to rule out infection in the case of soil or animal waste being ingested. As a first step, treatment should replace missing nutrients if applicable and address any other health issues. A multi-faceted approach including developmental, behavioral, and environmental therapy along with family education is often recommended. Sometimes treatment can succeed when the individual experiences negative consequences after eating a non-food substance, and then gets positive reinforcement for consuming proper food.

Ultimately the prognosis depends on a variety of factors. Pica may stop spontaneously in children and pregnant women, but can go on for years in people with mental and developmental disabilities unless treatment is sought. In the case of those with special needs, sometimes medication can be used to lessen the pica eating. Regardless of the root cause, seeking a doctor’s help is key to starting the road to recovery.

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Wilson's Disease

The Wilson disease bears the name of the physician Samuel Alexander Kinnier Wilson (1878–1937, photo), a neurologist who has described the condition, including the pathological changes in the brain and liver, in 1912.

Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this is manifested as neurological or psychiatric symptoms and liver disease that affects about 1 in 30,000 people. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required. 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.

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.

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.

People 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.

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.

Liver transplantation is an effective cure for Wilson's disease, but is used only in particular scenarios because of the numerous risks and complications associated with the procedure. It is used mainly in people with fulminant liver failure who fail to respond to medical treatment, or in those with advanced chronic liver disease. Liver transplantation is avoided in severe neuropsychiatric illness, in which its benefit has not been demonstrated.

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Smallpox

Let's begin with something easy to see, easy to digest. Smallpox for example.

Smallpox was a disease unique to humans caused by infection with either of two virus variants, Variola major and Variola minor. The disease is also known as Variola or Variola vera.

The localization is in small blood vessels of the skin, in the mouth and throat. In the skin, is manifested in a characteristic rash, and later, raised fluid-filled blisters.

Smallpox is believed to have emerged in human populations about 10.000 BC. The earliest and important physical evidence of smallpox is the pustular rash on the mummified body of Pharaoh Ramses V of Egypt himself. The disease killed an estimated 400.000 Europeans per year during the closing years of the 18th century, was responsible for a third of all blindness and for an estimated 300–500 million deaths during the 20th century.

After large vaccination campaigns throughout the 19th and 20th centuries, the WHO (World Health Organization) certified the eradication of Smallpox in 1979. The other infection disease that was eradicated is Rinderpest (RPV), last case been confirmed in 2011.

The infection is transmitted through inhalation of airborne variola virus, usually droplets expressed from the oral, nasal, or pharyngeal mucosa of an infected person. It is transmitted from one person to another through face-to-face contact with an infected person, usually within a distance of 6 feet (1.8 m), but an other way to be spread is through direct contact with infected body fluids or contaminated objects. The virus can even cross the placenta, but the incidence of congenital smallpox is relatively low.

Chickenpox was commonly confused with smallpox after eradication. Unlike smallpox, chickenpox does not usually affect the palms and soles. Additionally, at chickenpox the size of the pustules is varying due to variations in the timing of pustule eruption: smallpox pustules are nearly the same size since the viral effect progresses more uniformly. A variety of laboratory methods are available for detecting chickenpox in evaluation of suspected smallpox cases.

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My first one...

This first post will be the best way to place an intro to the blog. I'm a medstudent in my 4th year at dental college and the content of this blog will be mostly about bizarre syndromes of diseases of various organs.

As a student, I am often witness to interesting and strange events in local hospitals. My wish is to share those events from now on with you. Sorry from now for my bad English grammar, but is not my primary language.

Hope to be in touch with you soon with my first serious post.