Obesity

Obesity, or nediez pimelose (technically, the Greek pimelē = ose fat and morbid process) is a chronic multifactorial, in which the natural reserve of fat increases to the point that becomes associated with certain health problems or increased mortality rate. It is the result of a positive energy balance, ie food intake is greater than energy expenditure.

Although it is an individual clinical condition, is seen increasingly as a serious and growing public health problem: excessive body weight predisposes to a number of diseases, particularly cardiovascular disease, type 2 diabetes mellitus, sleep apnea and osteoarthritis.

According to the IBGE, on research done in 2008 and 2009 in Brazil obesity affects 12.4% of men and 16.9% of women over 20 years, 4.0% of men and 5.9% of women aged 10 and 19 years and 16.6% of boys and 11.8% of girls aged 5-9 years.1 Obesity increased between 1989 and 1997 from 11% to 15% and remained fairly stable since being higher in southeastern country and lowest in the Northeast.

Treatment

The primary treatment for obesity is the reduction of body fat through diet adjustment and increasing exercise. Diet and exercise programs produce average loss of approximately 8% of the total mass (excluding those who do not complete programs). Not everyone is pleased with these results, but even the loss of 5% of the mass can contribute significantly to health. Harder than losing weight, maintaining weight is reduced. Between 85% and 95% of those who lose 10% or more of their body weight, regain all the lost weight within two to five years. The body has systems that maintain homeostasis in certain fixed points, including weight. There are six recommendations for the clinical treatment of obesity:

1. People with a BMI above 30 should begin a program of reduced caloric diet, exercise and other behavioral interventions and establish realistic goals for weight loss.

2. If the goals are not achieved, drug therapy can be offered. The patient should be informed of the possibility of side effects and the lack of data on safety and efficacy of these drugs in the long term.

3. Pharmaceutical therapy may include sibutramine, orlistat, phentermine, diethylpropion, fluoxetine and bupropion. For more severe cases of obesity, stronger drugs such as amphetamine and methamphetamine may be used selectively (only after consulting your doctor responsible).

4. Patients with BMI over 40 who do not reach their goals of weight loss (with or without medication) and who develop other conditions arising from obesity, may receive an indication to perform bariatric surgery. The patient should be informed of the risks and potential complications.

5. In these cases, surgery should be performed in centers that perform many of these procedures since the evidence indicates that patients of surgeons who perform frequently tend to have fewer complications after surgery.

Epidemiology

Obesity is also characterized as a matter of aesthetic and psychological nature, and is a major health risk. According to a study by WHO, currently about 500 million adults.

Nauru, the Pacific island has the highest obesity problems, because 80% of the population suffers from obesity, and the country where there is more malnutrition in Somalia, where 75.02% of the population goes hungry. Countries like Barbados, USA, Brazil also suffer from serious problems with a population overweight.

In the last twenty years, Latin America has gone through the epidemiological transition, demographic and nutrition, reflecting changes related to nutrition. In this population, such changes are well characterized by surveys that show the passage of the higher incidence of malnutrition for the greater prevalence of obesity. Gives to this phenomenon the name of Nutritional Transition 5.

Hypocalcaemia

Hypocalcemia is the existence of a low concentration of calcium in the blood.

Changes in calcium homeostasis

The equilibrium concentration of calcium is maintained by parathyroid hormone (PTH), vitamin D metabolites by, for bone and the kidney. The state of normocalcaemia corresponds to 4.5 to 5.5 mEq / L or 9.0 to 11.0 mg%. Importantly, the serum calcium is the sum of ionized calcium (physiologically active fraction, which corresponds to about 30% of the calcium current), the non-ionized calcium and calcium bound to plasma proteins.

Lactose intolerance

Lactose intolerance is the inability to digest lactose (milk sugar) due to the absence or insufficient quantity digestive deenzimas.

There are three types of lactose intolerance, which are caused by different processes. They are:

1. congenital - unusual happens shortly after birth;

2. that occurs after bowel diseases (such as diarrhea) - quite common in infants in the first year of life. Usually manifests itself after an episode of infectious diarrhea. In these cases resolved after infection, persistence of diarrhea to no healing to occur in the intestine. Continue feeding bottles containing lactose (besides breast milk), these cases can prolong diarrhea. The doctor needs to be consulted for better orientation.

3. a progressive decrease in the ability to digest lactose - a frequent condition, which gradually appears from two years old to adulthood. Diarrhea, excessive gas, abdominal pain and rashes are the most frequent complaints. The treatment involves the replacement of foods containing milk.

The laboratory test used in clinical practice for the diagnosis of lactose intolerance is lactose tolerance test which consists in monitoring blood glucose after an oral dose of lactose. The test is considered positive if the measures of glucose did not show an increase of 18 mg / dL between the initial fasting glucose and performed 20 consecutive, 40 and 60 minutes.

Today there are industrial formulas with cow's milk without lactose.

Older children and adults may not need as severe a diet and can tolerate small amounts of lactose. For example, some tolerate yogurt and others not.

To have a genetic origin, the prevalence of lactose intolerance can vary greatly from population to population, for example, only 1% of Swedes have already among Thais, the prevalence is 98%

Epidemiology

This intolerance appears in about one quarter of the European population and virtually all adult Asian population.

This inability is genetic. Indeed, lactose intolerance in the adult is considered to be a characteristic ancestor.

Lipodystrophy

Lipodystrophy is an abnormal body fat distribution. Patients tend to develop resistance to insulin, diabetes, and high triglycerides. Some forms are inherited and include the syndrome Berardinelli-Seip.1

Childhood obesity

Childhood obesity is, according to the World Health Organization, one of the problems most serious public health doséculo XXI, especially in so-called developing countries. In 2010, there were 42 million overweight children worldwide, of which 35 million lived in developing countries.

Obesity is related to a number of factors such as diet and physical activity, as well as biological, behavioral and psychological. This is not a problem merely aesthetic. Besides often suffering "bullying" from colleagues, obese children tend to develop various health problems such as diabetes, heart disease and malformation of the skeleton. Overweight and obesity are the fifth leading risk factor for dysfunction in the world. Each year, at least 2.8 million people die as a result of adults overweight or obesity. 44% of diabetes cases, 23% of cases of ischemic heart disease and from 7% to 41% of cases of some cancers are attributable to overweight and obesity.

The WHO believes that obesity has become an epidemic. According to the Organization, overweight and obese children tend to become obese adults and are more likely to acquire earlier non-communicable diseases such as diabetes and cardiovascular disease. The WHO considers a priority the prevention of childhood obesity.

Causes

Excess weight can be caused by two major factors: the hypertrophy (increase in fat cell size) or hyperplasia (increased number of fat cells). When a fat cell is generated, it must remain in the body until the death of the individual. Therefore the only way to eliminate excess weight is fat elimination of that cell. Why is this so hard to eliminate obesity, after childhood and adolescence.

Many people in the day-to-day have many appointments during the day and end up having to have lunch, dinner or a snack on fast foods - a bad habit that can pass from parents to children and children to their grandchildren.

A nursery in Fortaleza (2005), a survey was conducted regarding childhood obesity and ineffective breastfeeding with 90 kids. The evaluation results were as follows: 57.7% (normal weight), 14.4% (overweight), 13.3% (obese), 11.1% (underweight) and 3.3% (malnourished) . Observed in the survey that 60% of children had a pattern of ineffective breastfeeding (<6 months and not breastfed), 60% of them lived in households with a monthly income of less than minimum wage.

According to the study, was able to create a relationship of obesity with ineffective breastfeeding. Despite the inability of research controlling for other factors that might be related (the child's birth weight, caloric intake, level of physical activity) were crucial to the results suggest that an ineffective breastfeeding, linked to a poor socioeconomic status, may favor the emergence a scenario conducive to childhood obesity.

The importance of breast milk to the child's development and for preventing the emergence of other diseases is an issue and advocated widespread throughout the world (eg the U.S. was discovered a protein in mother's milk, adiponectin, one that is able to control how the body processes sugars and milk fats.). But we must emphasize that the mechanisms that could lead to a lack of breast milk to obesity are not completely clear. Probably would be linked to "metabolic imprinting", promoting a decrease in the susceptibility of a baby, which could become obese in childhood and adulthood. We also know that breast milk is composed of factors such as the hormones insulin, T3 and T4 and leptin, acting at the center of feeding and satiety, located in the hypothalamus, regulating energy balance metabolism child.

Research conducted by the University of Colorado in the United States, show that the addiction to fast food begins in pregnancy. According to scholars, the mother's diet during pregnancy sensitizes the fetus to smell certain aromas and flavors, coming to change the development of your brain. Therefore, even after a few years, the child is more inclined to eat this type of food.

In summary we can say that we are easily attracted to such things because of basic reasons that could be circumvented, and well, although we think we are gaining a lot from it, in fact we're wasting a lot like our health.

What can you do to avoid obesity

• If your child takes a bottle, do not force it to suck more than he wants;

• Enter solids feeding your child only after 4 months of age;

• Do not force your child to eat more than he wants;

• Do not offer food as a reward for good behavior;

• Prefer juices to sodas;

• Prepare healthy snacks instead of candy and cookies;

• Encourage your child to practice more sports.

Rickets

• Rickets is a disease resulting from inadequate bone mineralization in growing, or epiphyseal plate. It is among the most frequent childhood diseases in many developing countries. The predominant cause is a vitamin D deficiency, or by insufficient exposure to sunlight and low dietary intake, but calcium deficiency in the diet can also generate rickets.

• Osteomalacia is the term used to describe a similar condition occurs in adults, usually due to lack of vitamin D.

Treatment and Prevention

Diet and sunlight

The treatment involves increased levels of phosphorus, phosphate and vitamin D in the diet. Exposure to UV rays, olive oil and ergosterol, are sources of vitamin D.

A sufficient amount of ultraviolet rays from the sun each day and adequate supply of calcium and phosphorus in the diet can prevent rickets. The replacement of vitamin D was proved that corrects rickets when using methods of medicine and ultraviolet light therapy.

Recommendations are 50 international units of vitamin D per day for children. Children who do not acquire adequate amounts of vitamin D are at increased risk of having rickets. Vitamin D is essential for allowing the body to absorb calcium to the correct use and maintenance of bone calcification.

Supplementation

Sufficient levels of vitamin D can also be achieved with a dietary supplementation. Vitamin D3 (cholecalciferol) is the preferred form since it is more readily absorbed than vitamin PP (niacin). Most dermatologists recommend vitamin D supplementation as an alternative to unprotected exposure to UV, due to increased risk of skin cancer associated with sun exposure.

According to the American Academy of Pediatrics, babies who are breastfed may not get enough vitamin D from their mother's milk. For this reason, the Academy recommends that babies who are fed exclusively by breast receive daily supplements of vitamin D from two months of age until they start taking a formula or milk fortified with vitamin D per day.

Treatment of the underlying disease

Some conditions that cause rickets should be treated.

Prognosis

The prognosis is good with deformities remitting in months or years.

Childhood obesity

Childhood obesity is, according to the World Health Organization, one of the problems most serious public health doséculo XXI, especially in so-called developing countries. In 2010, there were 42 million overweight children worldwide, of which 35 million lived in developing countries.

Obesity is related to a number of factors such as diet and physical activity, as well as biological, behavioral and psychological. This is not a problem merely aesthetic. Besides often suffering "bullying" from colleagues, obese children tend to develop various health problems such as diabetes, heart disease and malformation of the skeleton. Overweight and obesity are the fifth leading risk factor for dysfunction in the world. Each year, at least 2.8 million people die as a result of adults overweight or obesity. 44% of diabetes cases, 23% of cases of ischemic heart disease and from 7% to 41% of cases of some cancers are attributable to overweight and obesity.

The WHO believes that obesity has become an epidemic. According to the Organization, overweight and obese children tend to become obese adults and are more likely to acquire earlier non-communicable diseases such as diabetes and cardiovascular disease. The WHO considers a priority the prevention of childhood obesity.

Causes

Excess weight can be caused by two major factors: the hypertrophy (increase in fat cell size) or hyperplasia (increased number of fat cells). When a fat cell is generated, it must remain in the body until the death of the individual. Therefore the only way to eliminate excess weight is fat elimination of that cell. Why is this so hard to eliminate obesity, after childhood and adolescence.

Many people in the day-to-day have many appointments during the day and end up having to have lunch, dinner or a snack on fast foods - a bad habit that can pass from parents to children and children to their grandchildren.

A nursery in Fortaleza (2005), a survey was conducted regarding childhood obesity and ineffective breastfeeding with 90 kids. The evaluation results were as follows: 57.7% (normal weight), 14.4% (overweight), 13.3% (obese), 11.1% (underweight) and 3.3% (malnourished) . Observed in the survey that 60% of children had a pattern of ineffective breastfeeding (<6 months and not breastfed), 60% of them lived in households with a monthly income of less than minimum wage.

According to the study, was able to create a relationship of obesity with ineffective breastfeeding. Despite the inability of research controlling for other factors that might be related (the child's birth weight, caloric intake, level of physical activity) were crucial to the results suggest that an ineffective breastfeeding, linked to a poor socioeconomic status, may favor the emergence a scenario conducive to childhood obesity.

The importance of breast milk to the child's development and for preventing the emergence of other diseases is an issue and advocated widespread throughout the world (eg the U.S. was discovered a protein in mother's milk, adiponectin, one that is able to control how the body processes sugars and milk fats.). But we must emphasize that the mechanisms that could lead to a lack of breast milk to obesity are not completely clear. Probably would be linked to "metabolic imprinting", promoting a decrease in the susceptibility of a baby, which could become obese in childhood and adulthood. We also know that breast milk is composed of factors such as the hormones insulin, T3 and T4 and leptin, acting at the center of feeding and satiety, located in the hypothalamus, regulating energy balance metabolism child.

Research conducted by the University of Colorado in the United States, show that the addiction to fast food begins in pregnancy. According to scholars, the mother's diet during pregnancy sensitizes the fetus to smell certain aromas and flavors, coming to change the development of your brain. Therefore, even after a few years, the child is more inclined to eat this type of food.

In summary we can say that we are easily attracted to such things because of basic reasons that could be circumvented, and well, although we think we are gaining a lot from it, in fact we're wasting a lot like our health.

What can you do to avoid obesity

• If your child takes a bottle, do not force it to suck more than he wants;

• Enter solids feeding your child only after 4 months of age;

• Do not force your child to eat more than he wants;

• Do not offer food as a reward for good behavior;

• Prefer juices to sodas;

• Prepare healthy snacks instead of candy and cookies;

• Encourage your child to practice more sports.

Obesity

Obesity, or nediez pimelose (technically, the Greek pimelē = ose fat and morbid process) is a chronic multifactorial, in which the natural reserve of fat increases to the point that becomes associated with certain health problems or increased mortality rate. It is the result of a positive energy balance, ie food intake is greater than energy expenditure.

Although it is an individual clinical condition, is seen increasingly as a serious and growing public health problem: excessive body weight predisposes to a number of diseases, particularly cardiovascular disease, type 2 diabetes mellitus, sleep apnea and osteoarthritis.

According to the IBGE, on research done in 2008 and 2009 in Brazil obesity affects 12.4% of men and 16.9% of women over 20 years, 4.0% of men and 5.9% of women aged 10 and 19 years and 16.6% of boys and 11.8% of girls aged 5-9 years.1 Obesity increased between 1989 and 1997 from 11% to 15% and remained fairly stable since being higher in southeastern country and lowest in the Northeast.

Treatment

The primary treatment for obesity is the reduction of body fat through diet adjustment and increasing exercise. Diet and exercise programs produce average loss of approximately 8% of the total mass (excluding those who do not complete programs). Not everyone is pleased with these results, but even the loss of 5% of the mass can contribute significantly to health. Harder than losing weight, maintaining weight is reduced. Between 85% and 95% of those who lose 10% or more of their body weight, regain all the lost weight within two to five years. The body has systems that maintain homeostasis in certain fixed points, including weight. There are six recommendations for the clinical treatment of obesity:

1. People with a BMI above 30 should begin a program of reduced caloric diet, exercise and other behavioral interventions and establish realistic goals for weight loss.

2. If the goals are not achieved, drug therapy can be offered. The patient should be informed of the possibility of side effects and the lack of data on safety and efficacy of these drugs in the long term.

3. Pharmaceutical therapy may include sibutramine, orlistat, phentermine, diethylpropion, fluoxetine and bupropion. For more severe cases of obesity, stronger drugs such as amphetamine and methamphetamine may be used selectively (only after consulting your doctor responsible).

4. Patients with BMI over 40 who do not reach their goals of weight loss (with or without medication) and who develop other conditions arising from obesity, may receive an indication to perform bariatric surgery. The patient should be informed of the risks and potential complications.

5. In these cases, surgery should be performed in centers that perform many of these procedures since the evidence indicates that patients of surgeons who perform frequently tend to have fewer complications after surgery.

Epidemiology

Obesity is also characterized as a matter of aesthetic and psychological nature, and is a major health risk. According to a study by WHO, currently about 500 million adults.

Nauru, the Pacific island has the highest obesity problems, because 80% of the population suffers from obesity, and the country where there is more malnutrition in Somalia, where 75.02% of the population goes hungry. Countries like Barbados, USA, Brazil also suffer from serious problems with a population overweight.

In the last twenty years, Latin America has gone through the epidemiological transition, demographic and nutrition, reflecting changes related to nutrition. In this population, such changes are well characterized by surveys that show the passage of the higher incidence of malnutrition for the greater prevalence of obesity. Gives to this phenomenon the name of Nutritional Transition 5.

Mucopolysaccharidosis

Mucopolysaccharidosis, or MPS is a subgroup of lysosomal storage diseases (DDL) which belong to even larger group of diseases entitled "Inborn Errors of Metabolism", setting up a metabolic disease caused by deficiency of enzymes.

Description

In MPS, there is a deficiency or lack of a certain enzyme in the lysosomes, which leads to accumulation of glycosaminoglycans (GAG), formerly known as mucopolysaccharides, name that gave rise to pathology. The glycosaminoglycan are molecules that have in their composition sugars that bind to a protein core. This molecule absorbs too much water, acquiring a viscous consistency, thereby promoting the lubrication between the tissues, allowing the sliding movement between them. This reduction of friction between the fabric allows, for example, the movement of bone joints. This dysfunction can lead to accumulation in cell function and, in most cases, pathological effects in cells, tissues and organs.

The cumulative incidence of all MPS is 1: 22,500 live births, but few studies have been made, which suggests that this incidence is underestimated.

The clinical manifestations of MPS's are usually multisystemic (affecting various organs) and very variable, existing forms mild to very severe.

There are seven types of MPS described presently, which are classified according to the type of deficient enzyme in the cell.

Treatment

As with many rare diseases, there is no cure for Mucopolysaccharidosis, which is merely palliative is to improve the quality of life of the patient. Some treatments are made basic drugs in an attempt to achieve the functions disabled by enzymes lacking. For Mucopolysaccharidosis I is administered the medicine called Laronidase. However, the most widely used and effective treatment is enzyme replacement therapy (ERT). The TRE is to introduce intravenous drug deficient in lysosomes of cells. So far this therapy is only approved for use in patients of Mucopolysaccharidosis I, MPS II, and MPS VI. Bone marrow transplantation is also being widely used in the attempt to insert stem cells are able to multiply properly composing enzymes.

Lipodystrophy

Lipodystrophy is an abnormal body fat distribution. Patients tend to develop resistance to insulin, diabetes, and high triglycerides. Some forms are inherited and include the syndrome Berardinelli-Seip.1

Hypocalcaemia

Hypocalcemia is the existence of a low concentration of calcium in the blood.

Changes in calcium homeostasis

The equilibrium concentration of calcium is maintained by parathyroid hormone (PTH), vitamin D metabolites by, for bone and the kidney. The state of normocalcaemia corresponds to 4.5 to 5.5 mEq / L or 9.0 to 11.0 mg%. Importantly, the serum calcium is the sum of ionized calcium (physiologically active fraction, which corresponds to about 30% of the calcium current), the non-ionized calcium and calcium bound to plasma proteins.

Lactose intolerance

Lactose intolerance is the inability to digest lactose (milk sugar) due to the absence or insufficient quantity digestive deenzimas.

There are three types of lactose intolerance, which are caused by different processes. They are:

1. congenital - unusual happens shortly after birth;

2. that occurs after bowel diseases (such as diarrhea) - quite common in infants in the first year of life. Usually manifests itself after an episode of infectious diarrhea. In these cases resolved after infection, persistence of diarrhea to no healing to occur in the intestine. Continue feeding bottles containing lactose (besides breast milk), these cases can prolong diarrhea. The doctor needs to be consulted for better orientation.

3. a progressive decrease in the ability to digest lactose - a frequent condition, which gradually appears from two years old to adulthood. Diarrhea, excessive gas, abdominal pain and rashes are the most frequent complaints. The treatment involves the replacement of foods containing milk.

The laboratory test used in clinical practice for the diagnosis of lactose intolerance is lactose tolerance test which consists in monitoring blood glucose after an oral dose of lactose. The test is considered positive if the measures of glucose did not show an increase of 18 mg / dL between the initial fasting glucose and performed 20 consecutive, 40 and 60 minutes.

Today there are industrial formulas with cow's milk without lactose.

Older children and adults may not need as severe a diet and can tolerate small amounts of lactose. For example, some tolerate yogurt and others not.

To have a genetic origin, the prevalence of lactose intolerance can vary greatly from population to population, for example, only 1% of Swedes have already among Thais, the prevalence is 98%

Epidemiology

This intolerance appears in about one quarter of the European population and virtually all adult Asian population.

This inability is genetic. Indeed, lactose intolerance in the adult is considered to be a characteristic ancestor.

Hyperuricemia

7. Hyperuricemia is the presence of high levels of uric acid in the blood. The normal range for men is 6.8 mg / dL, and 6 mg / dL for women.

8. Humans do not produce urate oxidase, an enzyme that degrades uric acid. High levels of this substance can lead to gout (disease) and, in some cases, impaired renal function (urate nephrolithiasis).

9. Causes and epidemiology

10. Uric acid levels in plasma above 6 mg% in women and 7 mg% in men occur in 10 &ndsh; 15% of the population over 40 years. Usually asymptomatic, is related to other diseases, such as diabetes mellitus, hyperthyroidism, prolonged use of diuretics, alcohol intake and obesity. Hyperuricemia may occur due to overproduction or reduced renal and intestinal excretion of uric acid.

11. Most often occurs in men after puberty, with the highest incidence from 30 &ndsh; 40 years and in women at menopause. Hyperuricemia may be of two categories: Primary, when uric acid in the blood is high, regardless of concomitant diseases or drugs that alter the production and excretion of urate. Secondary, when the increase is due to diseases existing diets and drugs that alter the production and excretion of uric acid. Hyperuricemia in 75% of patients are asymptomatic. In 25%, symptoms such as: gout, arthritis, nephrolithiasis (kidney stones), kidney disease (nephritis) and formation of uric acid deposits in tissues (tophi). The asymptomatic hyperuricemia often occurs frequently with alcohol abuse, obesity and chronic use of drugs that inhibit the excretion of uric acid as anti-inflammatory - acetylsalicylic acid (aspirin) - and diuretics. The presence of hyperuricemia is associated with risk factors such as hypertension, hyperlipidemia, diabetes and coronary vascular alterations.

12. The widespread consumption of foods high in purines is recognized as one of the causes of hyperuricemia, despite being demonstrably a minor factor compared to the protein metabolism of endogenous origin. The composition of purine bases in foods varies, but studies suggest that diets rich in adenine and hypoxanthine are more effective in increasing hyperuricemia.

13. In addition, it can also be caused by genetic defects that alter the cycle of urate formation.

Treatment

Given that hyperuricemia is a risk factor for cardiovascular disease should maintain normal plasma uric acid. For this it is necessary that physicians educate their treatment. In the treatment of hyperuricemia is necessary: ​​to prevent an acute attack of arthritis uric acid (gout), using anti-inflammatory drugs in pain crises; hipouriceminates or uricosuric use in patients (according to their clinical conditions, the decision to be taken by the physician); make prophylaxis of recurrent arthritis, nephrolithiasis, nephritis and gout; reduce predisposing factors such as alcohol, improper diet and medications that reduce uric acid excretion by the kidney, preventing and reversing the deposition of urate crystals in the joints, bones and tissues; extend long enough for the treatment to be demobilized urate tissue and bone and the plasma uric acid value returns to normal.

The diet is an item of treatment of uric acid, but not the only (or necessarily important.) Foods not recommended for patients with hiperuricemias are rich in purines, such as meats and kids in general (liver, heart, tongue and kidneys), small fish, sardines, trout, anchovies, seafood like mussels, shrimp and fish eggs. Stews and broths should be avoided because uric acid is very soluble in water and when the meat is cooked in water, uric acid diffuses in the liquid. Certain grains such as beans, chickpeas, peas, lentils and whole grains have a lot of purine and should be avoided. Finally, we say that every diet, how well it is made, can only download around 25% (approximately 1 mg%) of plasma levels of uric acid.

Hypertriglyceridemia

Hypertriglyceridemia is a form of dyslipidemia or hyperlipidemia caused by serum (blood) triglycerides (triacylglycerols) above normal levels. When it occurs alone, it is called pure hypertriglyceridemia. In conjunction with hypercholesterolemia (abnormal elevation of serum cholesterols), sehiperlipidemia called conjugated or mixed hyperlipidemia.

Hypertriglyceridemia, isolated hypercholesterolemia or combined, can contribute to the installation or the aggravation of atherosclerosis. It is considered cardiovascular risk, particularly worrisome if high levels of one or both of (cholesterols and triglycerides) are associated with certain lifestyle: Alcohol abuse, Alcohol worsens as the serum levels of triglycerides, rich diet saturated fats, use of tobacco, sedentary life.

Diagnosis

It is made by analyzes of clinical samples of blood from the patient, determination of serum levels of triglycerides, almost always accompanied by the determination of serum cholesterol.

Treatment

The doctor, the finding of hypertriglyceridemia and dyslipidemia any, shall prescribe the following guidelines generally jointly:

1. Correction of the diet, and should be understood broadly, as "daily habits of life" and not just the daily intake of a certain quality or quantity of food;

2. Reduction or suspension of intake of alcoholic beverages and tobacco products (adoption of new, healthy habits);

3. Adherence assisted program of physical exercises (which may be included in the broad sense, in "correct diet", for the reasons already mentioned);

4. Using, as necessary, to reduce drug intense and readily serum. Allopathic drugs may be essential. Nicotinic acid. Asestatinas. Fibrates are the most appropriate therapeutic class for treating isolated hypertriglyceridemia.

5. The suspension of Oral Contraceptives that in the labels include the factor "hypertriglyceridemia" as a risk factor for development of pancreatitis, as most have this warning because they have ciprosterona Acetate and Ethinyl Estradiol in its formula.

Hyperphosphatemia

Hyperphosphatemia is an electrolyte disorder in which there is an abnormally high level of phosphate in the blood. Often calcium levels are decreased (hypocalcemia) due to precipitation of calcium phosphate in the tissues.

Hypercalciuria

Hypercalciuria is increased excretion of calcium in urine.

Von Gierke disease

Glycogenosis

lysosomal glucosidase

Pompe disease

Glycogenosis type III

amyl-1 ,6-glucosidase

Cori's disease or disease Forbes

Glycogenosis type IV

amyl-1 ,4-1 ,6-glucosidase

Andersen disease

Glycogenosis type V

muscle glycogen phosphorylase

McArdle's disease

Glycogenosis type VI

liver glycogen phosphorylase

Hers disease

Glycogenosis type VII

muscle phosphofructokinase

Tarui disease

Glycogenosis type IX

phosphorylase kinase

-

Glycogenosis type XI

glucose transporter

Fanconi-Bickel disease

Glycogen storage disease type 0

glycogen synthetase

Glycogen

A glycogen storage disease (also called glycogen storage disease) is any illness related to inborn errors of metabolism, resulting from enzyme deficiencies that affect the processing of glycogen synthesis or breakdown in your muscles efígado.

In the 70 patients with glycogen storage disease had an increased mortality and permanent neurological damage with great delay in mental development and growth. Current treatment has significantly changed the clinical course, and there was dramatic improvement of prognosis in patients with glycogen storage disease type I, with a life expectancy exceeding the third decade.

Types

There are nine diseases that are generally regarded as glycogenosis. (Although the deficiency of the enzyme glycogen synthase does not result in an excess of glycogen stores in the liver, it is usually classified along with glycogenosis type as "0" because it is another defect in glycogen storage and can cause similar problems.)

Number enzyme deficient Eponym

Glycogen storage disease type I

glucose-6-phosphatase

Urbach-Wiethe

The Urbach-Wiethe is a rare brain disease that causes the patient not fear anything.

Usually individuals who have this disease are extremely curious about the unusual situations and can be constantly exposed to imminent dangers, since fear is a natural reaction of the human brain to avoid situations that may bring injury, physical or mental.

Tay-Sachs

Tay-Sachs disease has 5 mutations may be discovered during pregnancy and is the result of a recessive mutation, present only when it inherits mutated genes from both the mother and the father.

Signs and symptoms

Children with Tay-Sachs disease appear to develop normally in early vida.Após this initial period, with distention of nerve cells with fatty materials, there is a severe deterioration of mental and physical abilities. The child becomes blind, deaf and unable to swallow. Muscles begin to atrophy and paralysis occurs. Other neurological symptoms include dementia, seizures and growing "reflections scare" the noises. The disease typically becomes fatal in the range of 3 to 5 years.

One form of the disease is much rarer in patients between 20 and 30 years and is characterized by walking fickle and progressive neurological deterioration.

One of pathognomonic signs of the disease is the presence of a stain in the macula is called "cherry-red spot" due to the fact that it is located in foveola where there are no ganglion cells, which allows the natural red spectrum of light to be reflected the underlying choroidal vascular bed, the same happens with the rest of trimácula which becomes more distressed due to the accumulation of gagliosídeo within the retinal ganglion cells.

Treatment

Currently there is no treatment for Tay-Sachs. Anticonvulsant medications can control seizures initially. Other treatments include supportive nutrition and appropriate hydration and techniques to keep the airway open. Children may eventually need tube feeding.

Possible treatment, which has been shown effective in other children held only in Lima - Peru, with stem cells

Electrolyte disturbance

Electrolyte plays an important role in maintaining homeostasis of the organism. They help to regulate myocardial and neurological function, fluid balance, release oxigênionos tissues, acid-base balance and more. Electrolyte abnormalities may develop by the following mechanisms: excessive intake reduction or elimination of an electrolyte, reduction or elimination diminished or excessive thereof. The most common cause of electrolyte disturbances is renal insufficiency.

The most serious electrolyte disturbances involve abnormalities in the levels of sodium, potassium and / or calcium. Other electrolyte imbalances are less common and severe and often occurs together with the previous ones. The chronic abuse of laxatives and severe vomiting or diarrhea can lead to severe electrolyte disturbances in association with dehydration (electrolyte disturbance). Holders of bulimia or anorexia have higher risk of developing electrolyte imbalances.

Table of common electrolyte disturbances

Electrolyte Formula ionic Elevation Reduction

Sodium

Na + hypernatremia

Hyponatremia

Potassium

K + hyperkalemia

hypokalemia

Calcium

Ca2 + hypercalcemia

hypocalcemia

Magnesium

Mg2 + hypermagnesaemia

hypomagnesemia

Chlorine

Cl-hyperchloremia

hypochloremia

Phosphate

PO43-hyperphosphatemia

hypophosphatemia

Bicarbonate

HCO3-hiperbicarbonatemia

hipobicarbonatemia

Deficiency of ornithine transcarbamylase

Deficiency of ornithine transcarbamylase (OTC) is a rare inherited metabolic disease that affects the urea cycle and that affects one in 50,000 newborns. It is caused by the lack of a gene linked to chromosome X.

A deficiency of this enzyme - ornithine transcarbamylase - increases rates of urea in the blood plasma and may cause irreversible damage in newborns, when not diagnosed time.1

The symptoms observed in up to 48 hours of life, are lethargy, severe drowsiness, hypotonia, vomiting and thermal instability.

The disease can also be diagnosed in the prenatal period, through examinations of fetal DNA

Phosphofructokinase deficiency

Phosphofructokinase deficiency, known as disease Tarui1 2 glucogênese also called Type VII is a metabolic disease due to a deficiency of the enzyme phosphofructokinase, which converts fructose 6-phosphate to fructose-1 ,6-bisphosphate in step 3 glycolysis.

Malnutrition

Malnutrition is a disease caused by improper diet, low calorie and low protein. It can also be caused by malabsorption of nutrients or anorexia. Influences of social, psychiatric or simply pathological. Happens mainly among low-income individuals and especially children in underdeveloped countries.

According to Doctors Without Borders each year from 3.5000000 to 5,000,000 children under five die of malnutrition.

Causes

The most frequent cause of malnutrition is poor diet. Still, other diseases can trigger malabsorption or feeding difficulty and cause malnutrition and lack of food.

Pathophysiology and clinical

For an individual primarily with normal nutritional status, while having their food highly limited, suffers primarily with energy expenditure. Consumed quickly osATPs produced by mitochondria and then tissue glucose and blood insulin release.

With the depletion of glucose, the next energy source being used is the glycogen stored in the muscles and liver. He is quickly lysate into glucose and provides a reasonable supply of energy. Its depletion will cause apathy, prostration and even syncope - the brain uses only glucose and ketone bodies as an energy source suffers greatly when there hypoglycemia.

Then fat (triglyceride) is freed from fat reserves, is broken into more fatty-acid glycerol. Glycerol is transported to the liver to produce new molecules of glucose. The fatty acid by beta-oxidation to form ketones causes increased blood acidity (pH 7.4 sanguine usual). The accumulation of ketone bodies in the blood can lead to the development of cetomia, progression tends to evolve with the emergence of keto-acidosis (pH <7.3) compensated by the body to release bicarbonates in circulation.

The skin gets thicker, without subcutaneous adipose tissue. In this step, the proteins of the muscles and liver are now broken into amino acids for these pass through gluconeogenesis to be a new source of glucose (energy). In fact, the body can still use various substances as an energy source beyond these, if possible. There is great loss of muscle mass and the individual features are closer to the skeleton. Muscle strength is minimal and the result is the following death.