Rubella, commonly known as German measles, is a disease caused by Rubella virus. The name is derived from the Latin, meaning little red. Rubella is also known as German measles because the disease was first described by German physicians in the mid-eighteenth century. This disease is often mild and attacks often pass unnoticed. The disease can last one to three days. Children recover more quickly than adults. Infection of the mother by Rubella virus during pregnancy can be serious; if the mother is infected within the first 20 weeks of pregnancy, the child may be born with congenital rubella syndrome (CRS), which entails a range of serious incurable illnesses. Spontaneous abortion occurs in up to 20% of cases.[1]

Rubella is a common childhood infection usually with minimal systemic upset although transient arthropathy may occur in adults. Serious complications are very rare. Apart from the effects of transplacental infection on the developing fetus, rubella is a relatively trivial infection.

Acquired (i.e. not congenital) rubella is transmitted via airborne droplet emission from the upper respiratory tract of active cases. The virus may also be present in the urine, feces and on the skin. There is no carrier state: the reservoir exists entirely in active human cases. The disease has an incubation period of 2 to 3 weeks.[2]

In most people the virus is rapidly eliminated. However, it may persist for some months post partum in infants surviving the CRS. These children are a significant source of infection to other infants and, more importantly, to pregnant female contacts.

After an incubation period of 14-21 days, the primary symptom of rubella virus infection is the appearance of a rash (exanthem) on the face which spreads to the trunk and limbs and usually fades after three days. Other symptoms include low grade fever, swollen glands (post cervical lymphadenopathy), joint pains, headache and conjunctivitis.[3] The swollen glands or lymph nodes can persist for up to a week and the fever rarely rises above 38 oC (100.4 oF). The rash disappears after a few days with no staining or peeling of the skin. Forchheimer’s sign occurs in 20% of cases, and is characterized by small, red papules on the area of the soft palate.

Rubella can affect anyone of any age and is generally a mild disease, rare in infants or those over the age of 40. The older the person is the more severe the symptoms are likely to be. Up to one-third of older girls or women experience joint pain or arthritic type symptoms with rubella. The virus is contracted through the respiratory tract and has an incubation period of 2 to 3 weeks. During this incubation period, the carrier is contagious but may show no symptoms.

Rubella can cause congenital rubella syndrome in the newly born. The syndrome (CRS) follows intrauterine infection by Rubella virus and comprises cardiac, cerebral, ophthalmic and auditory defects.[4] It may also cause prematurity, low birth weight, and neonatal thrombocytopenia, anaemia and hepatitis. The risk of major defects or organogenesis is highest for infection in the first trimester. CRS is the main reason a vaccine for rubella was developed. Many mothers who contract rubella within the first critical trimester either have a miscarriage or a still born baby. If the baby survives the infection, it can be born with severe heart disorders (PDA being the most common), blindness, deafness, or other life threatening organ disorders. The skin manifestations are called “blueberry muffin lesions.” [5]

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Rotor syndrome is a rare, relatively benign autosomal recessive bilirubin disorder of unknown origin.

It has many things in common with Dubin-Johnson syndrome except that in Rotor Syndrome, the liver cells are not pigmented. The main symptom is a non-itching jaundice. There is a rise in bilirubin in the patient’s serum, mainly of the conjugated type.

It can be differentiated from Dubin-Johnson syndrome in the following ways:

Rotor syndrome is named after the Filipino internist, Arturo Belleza Rotor (1907-1988).[1]

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Romano-Ward syndrome, is the major variant of long QT syndrome. It is a condition that causes a disruption of the heart’s normal rhythm. This disorder is a form of long QT syndrome, which is a heart condition that causes the cardiac muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats can lead to fainting, seizures, or sudden death.

Romano-Ward syndrome is inherited in an autosomal dominant pattern. It is the most common form of inherited long QT syndrome, affecting an estimated 1 in 5,000 people worldwide, although more people may be affected but never experience any signs or symptoms of the condition.

Mutations in the ANK2, KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome. The proteins made by most of these genes form channels that transport positively-charged ions, such as potassium and sodium, in and out of cells. In cardiac muscle, these ion channels play critical roles in maintaining the heart’s normal rhythm. Mutations in any of these genes alter the structure or function of channels, which changes the flow of ions between cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Romano-Ward syndrome.

Unlike most genes related to Romano-Ward syndrome, the ANK2 gene does not produce an ion channel. The protein made by the ANK2 gene ensures that other proteins, particularly ion channels, are inserted into the cell membrane appropriately. A mutation in the ANK2 gene likely alters the flow of ions between cells in the heart, which disrupts the heart’s normal rhythm and results in the features of Romano-Ward syndrome.

This article incorporates public domain text from The U.S. National Library of Medicine

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Rocky Mountain spotted fever is the most lethal[1] and most frequently reported rickettsial illness in the United States. It has been diagnosed throughout the Americas. Some synonyms for Rocky Mountain spotted fever in other countries include “tick typhus,” “Tobia fever” (Colombia), “São Paulo fever” or “febre maculosa” (Brazil), and “fiebre manchada” (Mexico). It should not be confused with the viral tick-borne infection, Colorado tick fever. The disease is caused by Rickettsia rickettsii, a species of bacterium that is spread to humans by ixodid (hard) ticks. Initial signs and symptoms of the disease include sudden onset of fever, headache, and muscle pain, followed by development of rash. The disease can be difficult to diagnose in the early stages, and without prompt and appropriate treatment it can be fatal.

The name “Rocky Mountain spotted fever” is somewhat of a misnomer. Beginning in the 1930s, it became clear that this disease occurred in many areas of the United States other than the Rocky Mountain region. It is now recognized that this disease is broadly distributed throughout the continental United States, and occurs as far north as Canada and as far south as Central America and parts of South America. Between 1981 and 1996, this disease was reported from every U.S. state except Hawaii, Vermont, Maine, and Alaska.

Rocky Mountain spotted fever remains a serious and potentially life-threatening infectious disease today. Despite the availability of effective treatment and advances in medical care, approximately 3% to 5% of individuals who become ill with Rocky Mountain spotted fever still die from the infection. However, effective antibiotic therapy has dramatically reduced the number of deaths caused by Rocky Mountain spotted fever; before the discovery of tetracycline and chloramphenicol in the late 1940s, as many as 30% of persons infected with R. rickettsii died.

Rocky Mountain spotted fever, like all rickettsial infections, is classified as a zoonosis. Zoonoses are diseases of animals that can be transmitted to humans. Many zoonotic diseases require a vector (e.g., a mosquito, tick, or mite) in order to be transmitted from the animal host to the human host. In the case of Rocky Mountain spotted fever, ticks are the natural hosts, serving as both reservoirs and vectors of R. rickettsii. Ticks transmit the organism to vertebrates primarily by their bite. Less commonly, infections may occur following exposure to crushed tick tissues, fluids, or tick feces.

A female tick can transmit R. rickettsii to her eggs in a process called transovarial transmission. Ticks can also become infected with R. rickettsii while feeding on blood from the host in either the larval or nymphal stage. After the tick develops into the next stage, the R. rickettsii may be transmitted to the second host during the feeding process. Furthermore, male ticks may transfer R. rickettsii to female ticks through body fluids or spermatozoa during the mating process. These types of transmission represent how generations or life stages of infected ticks are maintained. Once infected, the tick can carry the pathogen for life.

Rickettsiae are transmitted to a vertebrate host through saliva while a tick is feeding. It usually takes several hours of attachment and feeding before the rickettsiae are transmitted to the host. The risk of exposure to a tick carrying R. rickettsii is low. In general, about 1%-3% of the tick population carries R. rickettsii, even in areas where the majority of human cases are reported.

There are two major vectors of R. rickettsii in the United States, the American dog tick and the Rocky Mountain wood tick. American dog ticks (Dermacentor variabilis) are widely distributed east of the Rocky Mountains and also occur in limited areas on the Pacific Coast. Dogs and medium-sized mammals are the preferred hosts of adult D. variabilis, although it feeds readily on other large mammals, including humans. This tick is the most commonly identified species responsible for transmitting R. rickettsii to humans. Rocky Mountain wood ticks (Dermacentor andersoni) are found in the Rocky Mountain states and in southwestern Canada. The life cycle of this tick may require up to 2 to 3 years for completion. Adult ticks feed primarily on large mammals. Larvae and nymphs feed on small rodents.

Other tick species have been shown to be naturally infected with R. rickettsii or serve as experimental vectors in the laboratory. However, these species are likely to play only a minor role in the ecology of R. rickettsii.

There are only 800 cases reported in the U.S. a year and only 20% find the tick.

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Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow,[1] along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children. By 2002, over 100 cases had been documented and introduced into medical literature.[1]

Two forms of the disorder exist, dominant and recessive, of which the former is more common. Patients with the dominant version often suffer moderately from the aforementioned symptoms. Recessive cases, on the other hand, are usually more physically marked, and individuals may exhibit more skeletal abnormalities.[2] Interestingly, the recessive form is particularly frequent in Turkey.[3] However, this can likely be explained by a common ancestor, as these patients’ families can be traced to a single town in Eastern Turkey.[4] Clusters of the autosomal recessive form have also been documented in Oman and Czechoslovakia.[1]

The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism, fetal face, fetal face syndrome,[5] fetal facies syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia syndrome.[6] The recessive form was previously known as Covesdem syndrome.

Robinow noted the resemblance of affected patients’ faces to that of a fetus, using the term “fetal facies” to describe the appearance of a small face and widely spaced eyes.[1] Clinical features also may include a short, upturned nose, a prominent forehead, and a flat nasal bridge. The upper lip may be “tented,”[1] exposing dental crowding, “tongue tie,” or gum hypertrophy.

Though the eyes do not protrude, abnormalities in the lower eyelid may give that impression. Surgery may be necessary if the eyes cannot close fully. In addition, the ears may be set low on the head or have a deformed pinna.

Patients suffer from dwarfism, short lower arms, small feet, and small hands. Fingers and toes may also be abnormally short and laterally or medially bent. The thumb may be displaced and some patients, notably in Turkey, experience ectrodactyly.[1] All patients often suffer from vertebral segmentation abnormalities. Those with the dominant variant have, at most, a single butterfly vertebra.[2] Those with the recessive form, however, may suffer from hemivertebrae, vertebral fusion, and rib anomalies. Some cases resemble Jarcho-Levin syndrome or spondylocostal dysostosis.

Genital defects characteristically seen in males include a micropenis with a normally developed scrotum and testes. Sometimes, testicles may be undescended, or the patient may suffer from hypospadias.[2] Female genital defects may include a reduced size clitoris and underdeveloped labia minora. Infrequently, the labia majora may also be underdeveloped.[2] Some research has shown that females may experience vaginal atresia or haematocolpos.[3]

The autosomal recessive form of the disorder tends to be much more severe. Examples of differences are summarized in the following table:[7]

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Rift Valley Fever (RVF) is a viral zoonosis (affects primarily domestic livestock, but can be passed to humans) causing fever. It is spread by the bite of infected mosquitoes, typically the Aedes or Culex genera. The disease is caused by the RVF virus, a member of the genus Phlebovirus (family Bunyaviridae). The disease was first reported among livestock in Kenya around 1915, but the virus was not isolated until 1931. RVF outbreaks occur across sub-Saharan Africa, with outbreaks occurring elsewhere infrequently (but sometimes severely – in Egypt in 1977-78, several million people were infected and thousands died during a violent epidemic. In Kenya in 1998, the virus claimed the lives of over 400 Kenyans. In September 2000 an outbreak was confirmed in Saudi Arabia and Yemen).

In humans the virus can cause several different syndromes. Usually sufferers have either no symptoms or only a mild illness with fever, headache, myalgia and liver abnormalities. In a small percentage of cases (< 2%) the illness can progress to hemorrhagic fever syndrome, meningoencephalitis (inflammation of the brain), or affecting the eye. Patients who become ill usually experience fever, generalized weakness, back pain, dizziness, and weight loss at the onset of the illness. Typically, patients recover within 2-7 days after onset.

Approximately 1% of human sufferers die of the disease. Amongst livestock the fatality level is significantly higher. In pregnant livestock infected with RVF there is the abortion of virtually 100% of fetuses. An epizootic (animal disease epidemic) of RVF is usually first indicated by a wave of unexplained abortions.

Several animal vaccines have been made to protect against RVF infection. The first one to be developed was a live vaccine. When administered to mice, the results were promising, this vaccine provided immunity for 3 years. However a problem was encountered: administration to pregnant ewes on many occasions led to abortion. From there on in, attenuated vaccines have been developed. Although they are protective, and do not cause adverse effects, this was only achieved after multiple inoculations. The fact that multiple doses were required could prove problematic especially in areas where RVF is endemic.

In November 2006, a Rift Valley fever outbreak occurred in Kenya. The victims are from the North Eastern Province and Coast Province of Kenya, which have received heavy rain in recent months, causing floods and creating breeding grounds for mosquitoes which spread the virus of the fever from infected livestock to humans.

As of 7 January 2007, about 75 people have died and another 183 infected. [1] The outbreak has forced the closure of livestock markets in the North Eastern Province, affecting the economy of the region.[2]

The outbreak was subsequently reported to have moved into Maragua and Kirinyaga districts of Central Province of Kenya.[3]

On 20 January 2007 the outbreak was reported to have crossed into Somalia from Kenya and killed 14 people in the Lower Jubba region.[4]

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Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disorder that most commonly causes inflammation and tissue damage in joints (arthritis) and tendon sheaths, together with anemia. It can also produce diffuse inflammation in the lungs, pericardium, pleura, and the sclera of the eye, and also nodular lesions, most common in subcutaneous tissue under the skin. It can be a disabling and painful condition, which can lead to substantial loss of functioning and mobility. It is diagnosed chiefly on symptoms and signs, but also with blood tests (especially a test called rheumatoid factor) and X-rays. Diagnosis and long-term management are typically performed by a rheumatologist, an expert in the diseases of joints and connective tissues.[1]

Various treatments are available. Non-pharmacological treatment includes physical therapy and occupational therapy. Analgesia (painkillers) and anti-inflammatory drugs, as well as steroids, are used to suppress the symptoms, while disease-modifying antirheumatic drugs (DMARDs) are often required to inhibit or halt the underlying immune process and prevent long-term damage. In recent times, the newer group of biologics has increased treatment options.[1]

The name is based on the term “rheumatic fever”, an illness which includes joint pain and is derived from the Greek word rheumatos (“flowing”). The suffix -oid (“resembling”) gives the translation as joint inflammation that resembles rheumatic fever. The first recognized description of rheumatoid arthritis was made in 1800 by Dr Augustin Jacob Landré-Beauvais (1772-1840) of Paris.[2]

While rheumatoid arthritis primarily affects joints, problems involving other organs of the body are known to occur. Extra-articular (“outside the joints”) manifestations other than anemia (which is very common) are clinically evident in about 15-25% of individuals with rheumatoid arthritis.[3] It can be difficult to determine whether disease manifestations are directly caused by the rheumatoid process itself, or from side effects of the medications commonly used to treat it – for example, lung fibrosis from methotrexate, or osteoporosis from corticosteroids.

The arthritis of rheumatoid arthritis is due to synovitis, which is inflammation of the synovial membrane that lines joints and tendon sheaths. Joints become swollen, tender and warm, and stiffness prevents their use. With time, RA nearly always affects multiple joints (it is a polyarthritis). Most commonly, small joints of the hands, feet and cervical spine are affected, but larger joints like the shoulder and knee can also be involved, differing per individual. Synovitis can lead to tethering of tissue with loss of movement and erosion of the joint surface, causing deformity and loss of function.[1]

Inflammation in the joints manifests itself as a soft, “doughy” swelling, causing pain and tenderness to palpation and movement, a sensation of localized warmth, and restricted movement. Increased stiffness upon waking is often a prominent feature and may last for more than an hour. These signs help distinguish rheumatoid from non-inflammatory problems of the joints, often referred to as osteoarthritis or “wear-and-tear” arthritis. In RA, the joints are often affected in a fairly symmetrical fashion although this is not specific and the initial presentation may be asymmetrical.

As the pathology progresses the inflammatory activity leads to tendon tethering and erosion and destruction of the joint surface, which impairs range of movement and leads to deformity. The fingers may suffer from almost any deformity, depending on which joints are most involved. Medical students are taught to learn names for specific deformities like ulnar deviation, boutonniere deformity, swan neck deformity and “Z-thumb” but these are of no more significance to diagnosis or disability than other variants.

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Rheumatic fever is an inflammatory disease which may develop two to three weeks after a Group A streptococcal infection (such as strep throat [note: scarlet fever does cause glomerulonephritis but it does not cause Rheumatic fever]). It is believed to be caused by antibody cross-reactivity and can involve the heart, joints, skin, and brain[1]. Acute rheumatic fever commonly appears in children ages 5 through 15, with only 20% of first time attacks occurring in adults[1].

It gets its name for its similarity in presentation to rheumatism.[2]

Rheumatic fever is common worldwide and responsible for many cases of damaged heart valves. In Western countries, it became fairly rare since the 1960s, probably due to widespread use of antibiotics to treat streptococcus infections. While it is far less common in the United States since the beginning of the 20th century, there have been a few outbreaks since the 1980s. Although the disease seldom occurs, it is serious and has a mortality of 2–5%.[3]

Rheumatic fever primarily affects children between ages 5 and 15 years and occurs approximately 20 days after strep throat or scarlet fever. In up to a third of cases, the underlying strep infection may not have caused any symptoms.

The rate of development of rheumatic fever in individuals with untreated strep infection is estimated to be 3%. The incidence of recurrence with a subsequent untreated infection is substantially greater (about 50%).[4] The rate of development is far lower in individuals who have received antibiotic treatment. Persons who have suffered a case of rheumatic fever have a tendency to develop flare-ups with repeated strep infections.

The recurrence of rheumatic fever is relatively common in the absence of maintenance of low dose antibiotics, especially during the first three to five years after the first episode. Heart complications may be long-term and severe, particularly if valves are involved.

T. Duckett Jones, MD, first published these criteria in 1944.[5] They have been periodically revised by the American Heart Association in collaboration with other groups.[6] Two major criteria, or one major and two minor criteria, when there is also evidence of a previous strep infection, support the diagnosis of rheumatic fever[1]. Exceptions are chorea and indolent carditis, each of which by itself can indicate rheumatic fever. [7][8][9]

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Rhabdomyolysis is the rapid breakdown (lysis) of skeletal muscle tissue (rhabdomyo) due to injury to muscle tissue. The muscle damage may be caused by physical (e.g. crush injury), chemical, or biological factors. The destruction of the muscle leads to the release of the breakdown products of damaged muscle cells into the bloodstream; some of these, such as myoglobin (a protein), are harmful to the kidney and may lead to acute kidney failure. Treatment is with intravenous fluids, and dialysis or hemofiltration if necessary.[1]

Rhabdomyolysis and its complications are major problems in people who are injured in disasters such as earthquakes and bombing. The disease and its mechanisms were first elucidated in the Blitz of London in 1941.[2]

Most cases of rhabdomyolysis develop as a result of muscle injury or strain, or other external causes (such as medication or intoxication). However, the cause is not always directly evident. Pain, tenderness, weakness and edema (swelling) of the affected muscles may be present. If the swelling is very rapid (such as after being released from a collapsed building), low blood pressure and shock may be present due to depletion of fluid from the bloodstream. Other symptoms are nonspecific and result either from the consequences of the breakdown in muscle tissue, or from the condition that caused the muscle breakdown.[1][3]

Swelling of the damaged muscle occasionally leads to compartment syndrome, the compression by swollen muscle of surrounding tissues in the same fascial compartment (such as nerves and blood vessels), leading to damage or loss of function in the part of the body supplied by these structures. Symptoms of this complication include decreased blood supply, decrease in sensation, or pain in the affected limb.[3]

Release of the components of muscle tissue into the bloodstream leads to disturbances in electrolytes, causing nausea, vomiting, confusion, coma and cardiac arrhythmias (abnormal heart rate and rhythm). Furthermore, damage to the kidneys may lead to dark (tea-colored) urine or a marked decrease (oliguria) or absence (anuria) of urine production, usually about 12–24 hours after the initial muscle damage. Finally, disruptions in blood clotting may lead to the development of a state called disseminated intravascular coagulation.[1][3]

Anything that destroys muscle tissue can cause rhabdomyolysis. The causes of rhabdomyolysis can be classified as either physical or non-physical. Physical rhabdomyolysis is in some situations confined to a particular area of the body, while rhabdomyolysis due to other causes tends to affect all muscles simultaneously.[1]

Recognized physical causes for rhabdomyolysis are:[1]

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Retinoblastoma (Rb) is a rapidly developing cancer which develops in the cells of the retina, the light sensitive cells of the eye. In the developed world, Rb has one of the best cure rates of all childhood cancers (95-98%), with more than nine out of every ten sufferers surviving into adulthood. Retinoblastoma is a very treatable cancer.

There are two forms of the disease; a genetic heritable form and a non-genetic non-inheritable form. Approximately 55% of children with Rb have the non-genetic form. If there is no history of the disease within the family, the disease is labelled “sporadic”, but this does not necessarily indicate that it is the non-genetic form. In about two thirds of cases, [1] only one eye is affected (unilateral retinoblastoma); in the other third, tumours develop in both eyes (bilateral retinoblastoma). The number and size of tumours on each eye may vary. The position, size and quantity of tumours are considered when choosing the type of treatment for the disease.

The most common and obvious symptom is an abnormal appearance of the pupil. In a healthy eye, the pupil may appear red when captured on a photograph where a flash has been used (Red Eye), whereas on an affected eye, the pupil may appear white or yellow (leukocoria). The yellowy appearance may also be visible in low artificial light and will resemble a cat’s eye.

Other less common symptoms are: deterioration of vision, a red and irritated eye, faltering growth or delayed development. Some children with retinoblastoma can develop a squint, commonly referred to as “cross-eyed” or “wall-eyed” (strabismus).

Should you notice any of these symptoms or have cause for concern, you should visit your general practitioner or pediatrician. If a white eye reflection has been spotted on a photograph, take the photograph with you when you see your general practitioner or pediatrician. Depending on the position of the tumors, they may be visible using an ophthalmoscope to look through the pupil. A positive diagnosis is usually made only with an examination under anesthetic (EUA).

A white eye reflection is not always a positive indication of retinoblastoma and can be caused by light being reflected badly or by other conditions such as Coats’s Disease.

Retinoblastoma is rare and affects approximately 1 in 20,000 births worldwide. In the UK around 40 to 50 new cases are diagnosed each year. Most children are diagnosed before the age of five years old. In the UK bilateral cases usually present within the first year with the average age at diagnosis being 9 months. Diagnosis of unilateral cases peaks between 24 and 30 months.

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