Rare diseases on the Planet

The rare disorder of the blue-skinned family of Kentucky

noreply@blogger.com (Atraccion1982) — Fri, 24 Feb 2012 01:27:43 PST

In 1958, Luke Combs took his wife to the hospital. The reason for the visit should be for something related to her health, but today is difficult to know for sure.

Because as soon as such Combs stepped into the hospital of the University of Kentucky (USA.), The doctors gave her more attention to him than her. All for one thing that he was pretty embarrassed but that was common in his family: Luke was blue.

It is no exaggeration, no makeup thing or something that depended on the light in your environment or the perception of someone who was with him. Luke Combs was blue, like a science fiction character.

It was soon discovered that it was not just him, but most of her family and neighbors from their homes in the Appalachian Mountains of Kentucky.

Thus began one of the largest and most exciting mysteries of medicine, a story that for years has puzzled several scientists and that at times has been considered an elaborate charade.

It all started six generations ago, when, in the nineteenth century, a French gentleman named Martin Fugate moved to an isolated house on the banks of Troublesome Creek, a stream was then uninhabited.

He married a very pale red-haired woman, an American named Elizabeh Smith. Soon the couple began to have children, grandchildren and then great-grandchildren. Almost all went blue. Even when related to other familys.

Now-finally-is known to be due to an unlikely union of recessive genes that survived in the family for generations. Fulgate Martin suffered from a blood disorder is called methemoglobinemia, the hemoglobin carried in his veins could not normally carry oxygen or use it for the tissues 'breathe'.

Thus, the effect is similar to when a person is frozen: his lips turn purple, blue skin and blood is chocolate brown because it has no oxygen.

Never mind that the gene is recessive: the Fulgate led a life so isolated in the Appalachian Mountains tended to relate to each other, thus 'protecting' their genetic legacy. The Fulgates married other Fulgates or, at best, with families living near them, like Smith, Ritchie, the Stacy or Combs.

Today, the range of suitors of Fulgate has opened, this condition is practically extinct. It is now known through the work of Dr. Madison Cawein III, a hematologist at the University of Kentucky. He died in 1985, but the notes he had published in the book Blue People of Troublesome Creek in 1982 were used to solve the mystery.

Now only a fringe of settle in history: what happened to Benjamin Stacy, as blue baby at birth, in 1975, its midwives were frightened and decided to take the maternity ward to a clinic for a transfusion.

He had to get his grandmother, Luna Fulgate, to say the kid was the color of a real Fulgate. At that grandmother has described as "the blue woman in the world." Today, Benjamin, who would be alive 37 years, is still missing.

Rare Diseases: Endometriosis

noreply@blogger.com (Atraccion1982) — Tue, 21 Feb 2012 23:36:08 PST

The Endometriosis is a chronic disease characterized by the growth of endometrial tissue plates outside the uterus.

It is estimated that between 10% and 15% of women between 25 and 44 years suffer from endometriosis. In half the cases the disease is active, causing pain, irritation and other problems.

This disorder is diagnosed when the endometrium (the lining of the uterus) grows in other areas of the body. Most often appears in the ovaries, fallopian tubes, vagina and pouch of Douglas, but may also be in the bladder, intestines, muscles, lungs.

The endometrium is the tissue that responds to hormonal changes. This is the layer of the uterus that grows every month to accommodate the fetus and is shed in the absence of fertilization resulting in menstruation.

When the endometrial cells are found outside the uterus also follow this cycle, but the blood and tissue to be drawn from them to the abdominal or pelvic cavity has no outlet to the outside causing irritation of adjacent organs and pain.

This abnormal growth of the endometrium is in the form of cysts that are classified according to their appearance.

Chocolate cysts or endometriomas: are capsules filled with liquid from menses. They can reach a considerable size and are relatively easy to detect and remove.

Implants or foci, are small cell clusters variables of form and color, very active and difficult to detect given your size. Often cause pain and discomfort.

Types of endometriosis:

Ovarian endometriosis: it develops in the ovaries forming endometriomas.

Endometriosis of rectovaginal septum: the endometrial tissue is located between the rectum and vagina. These are usually very active foci with a great capacity to grow and spread.

Peritoneal endometriosis: the outbreaks affecting the tissue that covers most of the organs of the abdominal and pelvic cavity (peritoneum). You can create significant problems of adhesions in different organs. Typically are located in back of the uterus, but also found in bladder and intestine.

Queuelen disease symptoms become more frequent during and a few days before menstruation:

Pelvic pain, abdominal, back, etc..
Nausea, vomiting
Weakness, fatigue, dizziness
Pain during and after sexual intercourse (dyspareunia)
Pain when urinating or defecating
Bowel and bladder problems
Heavy bleeding or irregular
Sterility problems
Sterility

About 30% to 40% of women with endometriosis are infertile, making that endometriosis is one of the three leading causes of infertility in women. Between 25% and 50% of infertile women have endometriosis

Many women find that with this disease when not able to conceive. When endometrial tissue grows in the ovaries and, above all, fallopian tubes, can cause obstruction of the latter and thus prevent fertilization.

Unfortunately, endometriosis is underdiagnosed and the later is detected, the worse the consequences.

Treatment will vary in each case and will be aimed at relieving symptoms. Hormonal therapies are used (oral contraceptives, progestogens, androgenic agents, analogs of the gonadotropin-releasing horona), analgesics to relieve pain and, in severe cases, surgery (laparoscopy or laparotomy) to destroy or remove the cysts, but about 20% of women who undergo this treatment do not experience any improvement and another 20% suffer a relapse.

Rare Diseases: Syndrome of Zollinger-Ellison

noreply@blogger.com (Atraccion1982) — Mon, 20 Feb 2012 04:03:02 PST

The syndrome of Zollinger-Ellison is a rare disorder that is caused by tumors and ulcers in the digestive system.

The disease is a condition in which there is an increase in the production of the hormone gastrin. Usually, a small tumor (gastrinoma) in the pancreas or small intestine produces the high levels of gastrin in the blood.

It forms one or more tumors in the pancreas or duodenum (upper small intestine). These tumors, called gastrinomas, produce a large amount of gastrin. Gastrin is a hormone that causes the stomach to produce acid.

The Zollinger-Ellison syndrome is caused by tumors which typically are located in the head of the pancreas and in the upper small intestine.

These tumors produce the hormone gastrin and are called gastrinomas. High levels of gastrin cause too much stomach acid production.

Gastrinomas occur as single tumors or small multiple tumors. Approximately half to two thirds of single gastrinomas are cancerous (malignant) that commonly spread to the liver and nearby lymph nodes.

Symptoms of the disease:

Abdominal pain
Diarrhea
Vomiting blood (occasional)
Signs and tests
The signs include ulcers in the stomach and small intestine.

Treatment:

Inhibitors Drugs called proton pump (omeprazole, lansoprazole and others) are now the first choice of treatment for Zollinger-Ellison syndrome.

These drugs reduce stomach acid production and promote healing of ulcers in the stomach and small intestine, as well as relieving abdominal pain and diarrhea.

Surgery to remove a single gastrinoma may be done if there is no evidence that it has spread to other organs (such as lymph nodes or the liver).

Surgery on the stomach (gastrectomy) to control acid production is rarely needed today.

Are you Nomofobico?

noreply@blogger.com (Atraccion1982) — Sat, 18 Feb 2012 05:20:42 PST

The nomofobia is an irrational fear felt by some when something prevents them from interacting with your phone. Some experts call it the "disease of the century and that the number of cases increases every year.

This week, a British study found that in the UK and suffers 66% of the population, an increase from 53% observed in the last survey four years ago.

Experts say that these people experience great anxiety when the following situations: loss of cell depleted battery or credit and lack of signal.

The first study sounded the alarm about this phenomenon was conducted by the British government in 2008 to investigate the anxieties experienced by cellphone users.

Four years later, the new study by the security company for mobile devices SecurEnvoy, reveals that the number of affected increased in the country.

After surveying 1,000 people, it was found that 77% of individuals aged between 18 and 24 suffered nomofobia, while in the age group ranging from 25 to 34 years, the incidence was 68%.

Moreover, the poll found that 41% of respondents were carrying two cell phones so they never get "disconnected."

The main symptoms of a person nomofóbica are fear of not having the phone. The nomofóbico can not imagine going out without him and also invests a minimum of four hours a day consulting it for reasons unrelated to work.

The nomofobia has been linked to addiction to technology and, as far as phones are concerned, the need felt by many to constantly review every message or sound alerts generated by the cell.

Earlier this year a team of researchers from the University of Worcester in the UK, found that the permanent anxiety, a result of being always connected, significantly raises the stress levels of users.

Paradoxically, the stress was greater when the cell was used more for personal purposes at work.

The study also emphasized the role of smart phones in increasing our need to feel connected. "The more you use more dependent we become and actually increase stress rather than relieve it," the researchers said.

In fact, concluded in his report, some feel the need so far to be in contact come to feel "vibrations of the phone that does not exist."

Psychiatrists argue that the grief over the death of a loved one is a mental illness Psychiatrists argue that the grief over the death of a loved one is a mental illness

noreply@blogger.com (Atraccion1982) — Sat, 18 Feb 2012 05:12:51 PST

The new edition of the "bible" of psychiatrists, the Diagnostic and Statistical Manual of Mental Disorders (DMS) attempts to classify the grief over the death of a loved one as a mental illness.

This classification matters because one of the main features of this manual is to guide psychiatrists on the diagnosis of a patient's symptoms and treatment they should receive, including drugs.

If pain is classified at a loss as a mental illness, the person who is suffering from this death may receive antidepressants to "treat" the pain.

But this pain is a disease? And, how long to allow a person to suffer the death of a loved one before classifying it as 'sick'?

In an editorial, the British medical journal The Lancet, expressed "concern" about its inclusion.

"Sorrow for the death of a loved one, he says, not a disease and should not be treated with medication."
The passionate Lancet article says that "medicate" a normal human emotion like this "is not only dangerously simplistic, it is a failed strategy."

The editors claim that this measure seems extreme emotions categorized as a problem to be solved is very worrying.

Previous editions of the DSM-publishing the American Psychiatric Association, stressed the need to perform before a diagnosis of serious mental disorder, the psychiatrist thinks, and often excluded, the pain of approaching death in a patient
.
But the new edition, the fifth-, to be issued does not include this warning.

"For those who are experiencing the loss of a loved one, rather than tablets, a doctor must provide time, compassion, memories, and empathy" The Lancet

According to The Lancet, "in the draft version of the DSM-5 is no such exclusion of pain near death."

This means, he says, that the feelings of profound sadness, loss, difficulty sleeping, crying, inability to concentrate, fatigue and loss of appetite, which continue for more than two weeks after the death of a loved one can be diagnosed as depression and not as a normal reaction to loss.

Prescribing drugs to these people, says the magazine, is a failed strategy and there is no evidence to show the effectiveness of antidepressants to treat people who lost a loved one recently.

The Lancet also expresses concern that the World Health Organization (WHO) is currently revising its International Classification of Diseases (ICD), which are based physicians worldwide for the diagnosis of diseases.

According to the article, "the WHO team reviewing this latest edition (ICD-11) is discussing a proposal to include a category called" prolonged grief disorder due to loss of a loved one. '"

As experts say, there are cases in which the pain of a person who loses a loved one becomes prolonged or depression.

But most people who experience the death of a close does not need treatment from a psychiatrist or other physician.

"The pain of a close loss is associated with adverse health effects, both physical and mental, but better target interventions to those at high risk of developing a disorder or those who develop complicated grief or depression, but not all, "says The Lancet.

He concludes that "the pain of approaching death is not a disease, it is more useful to think that this is part of human beings and is a normal response to the death of a loved one."

"Putting a time frame of this pain is inappropriate. Please: DSM-5 and ICD-11, take note."

"For those who are experiencing the loss of a loved one, rather than tablets, a doctor must provide time, compassion, memories, and empathy," says the publication.

Study shows the responsible of brain damage in Down syndrome

noreply@blogger.com (Atraccion1982) — Thu, 16 Feb 2012 14:26:20 PST

A study coordinated by the Center for Genomic Regulation has been reproduced in a transgenic mouse the same patterns in morphological and functional neuronal connections of people with Down syndrome.

The dendrites are the neural structures that make the connection between neurons (the neuronal synapses).

In the case of patients with Down syndrome, the receiving system information neurons, the dendritic tree, presents an altered morphology, since the dendrites are shorter and less complex trees, which probably reduced and alters the flow of information through the neuronal endings.

This is what makes these people probably can not develop normal cognitive skills, one of the characteristics of Down syndrome.

The DYRK1A gene on chromosome 21 is in three copies in Down syndrome. In a study published in the journal Cerebral Cortex, researchers have found that overexpression produced by excess copies of this protein in mice produces a dendritic morphology similar to that seen in the brains of people with Down syndrome.

In these mice, the dendrites showed an immature morphological aspect preventing the normal development of synaptic connections.

Moreover, the activity of these neurons was reduced. This would directly affect information processing in the brain of these people, what we would call the computing power of the brain, but also neuronal plasticity, resulting in a reduction in learning ability.

The finding may help scientists find new molecular therapeutic targets to assist the treatment of Down syndrome but also other pathologies with intellectual disabilities such as fragile X syndrome (this syndrome is caused by a mutation that affects a region of chromosome X in which lies the FMR-1 gene, so that there is a repetition of the bases CGG.

When the number of repetitions exceeds 230 occurs gene methylation and, therefore, it loses its function, thus producing the fragile X syndrome. Fragile X syndrome is inherited and is a character X-linked dominant). Fragile X syndrome is the leading cause of inherited mental retardation and the second after Down syndrome.

Global alert cause the flu AH1N1

noreply@blogger.com (Atraccion1982) — Mon, 13 Feb 2012 11:54:28 PST

H1N1 is a pandemic caused by a variant of swine-origin influenza A (subtype H1N1).

It's a new viral strain known as swine flu (the name given initially), North American influenza (proposed by the World Organization for Animal Health) in April 2009, WHO decided to call it Influenza A (H1N1), the letter A denotes the family of the human influenza virus and of some animals such as pigs and poultry, the letters H and N (Hemagglutinin and Neuraminidases) correspond to proteins.

Clinical symptoms are similar to seasonal flu: coughing, sneezing, fever, muscle aches and headaches, but the manifestations are variable and range from asymptomatic infection to severe pneumonia leading to risk of death to the patient.

The source of infection is a variant of H1N1, with genetic material from an avian strain, two swine strains and a human with a mutation that allowed the spread between species from pigs to humans, and then from person to person infecting .

In June 2009 the WHO classified as alert level six, ie ongoing pandemic that involves the community level outbreaks (caused locally without the presence of an infected person from the region of the initial outbreak). This alert level does not define the severity of disease caused by the virus, but its geographical range.

The case fatality rate of the disease was initially high, has come to be low to start antiviral treatment that is sensitive, however the future evolution of the virus is unpredictable, and notes the director-general Margaret Chan on 4 May, because "maybe in a month this virus is over, you may be left as is or may be worsening," and has warned that medical services should be alert to recognize the symptoms in more severe cases .

For example, pregnant women and people with health problems are more likely to complicate them the symptoms of swine flu.

Adults who experience high fever for more than three days should see a doctor, like children who present lethargy.

By contrast, patients with typical symptoms of flu should not be treated in hospitals.

According to Chan, one of the main challenges in the treatment of the pandemic is "that people understand when not to worry and when to seek emergency care."

Recently in influenza cases are increasing and the number of people killed, Mexico has the advantage of possessing the necessary equipment for rapid detection and to act promptly, but there are limitations by the health personnel in the care of cases, because some people with symptoms compatible with this disease that merit urgent attention.

It is therefore very important that federal and state health, as well as municipal and marginalized areas, strictly resume prevention campaigns and to equip themselves with the necessary resources in order to prevent this disease from becoming a serious health problem in Mexico.

Experts recommend a comprehensive program of seasonal influenza vaccination in developing countries, partly to meet vaccine demand so the laboratories are prepared for a mega production to cope with the pandemic.

The message comes from scientists is therefore very important to continue the effort to combat the threat and the risk still present and more strongly every day that this disease is uncontrollable.

H1N1 flu cases increase in Mexico

noreply@blogger.com (Atraccion1982) — Sun, 12 Feb 2012 00:34:29 PST

Mexico is on alert for the 81 people killed by the H1N1 flu in Mexico so far this year and more than 3,500 people infected with the virus.

In an official statement ensures that from 1 January to 9 February 2012 were confirmed 3,882 cases and 89 deaths from different types of influenza viruses.

Mexico currently circulating seasonal influenza virus three-AH1N1, AH3N2 and influenza B-, but the H1N1 (which caused the warning three years ago) is the predominant this year, with 91% of infections and an equal proportion of deaths.

The H1N1 virus emerged in Mexico in March and April 2009 and, locally, the infection alert was maintained until 29 June 2010, when there were some 1,300 dead and over 70,000 cases.

Moreover, health also reported that since the beginning of the winter season and until February 10, 2012 were 41 deaths from various causes associated with the cold, like carbon monoxide poisoning, hypothermia and burns, as well as different respiratory infections.

Epidemic H5N1 Plague 24 000 Deads Feb 11 2012

noreply@blogger.com (Atraccion1982) — Sat, 11 Feb 2012 23:41:12 PST

My Strange Addiction: Tumblr

noreply@blogger.com (Atraccion1982) — Fri, 10 Feb 2012 01:39:53 PST

A young man struggles with his Tumblr addiction, unbeknownst to the outside world.